Paper Details

Paper Title

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Paper Journal Title

Arch Neurol

Paper Citation Count

Paper Publication Year

2012

Bio Mention

72, ADCY5, Adenylyl cyclase 5, Autosomal dominant familial dyskinesia, CONCLUSIONS ADCY5, DNA variants, FDFM, Familial dyskinesia with facial myokymia, Mice, PARTICIPANTS, adenylyl, adenylyl cyclase 5, anxiety, autosomal dominant disorder, autosomal dominant mendelian diseases, c.2176G, c.2176G>A, chromosome band 3p21-3q21, deficient in Adcy5, exome, exome sequence, facial myokymia, linkage region, movement disorder

Mesh Descriptor

Author Name	Affiliation
Ying-Zhang Chen	University of Washington

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Dataset	Description	Source Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link
dbSNP	In addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.	Link

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