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Paper Details

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Birth Defects Res
17
2018
Author NameAffiliation
Johannes SchumacherInstitute of Human Genetics, University of Bonn School of Medicine and University Hospital of Bonn
Johannes Schumacher
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Datasets

dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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
dbSNPIn 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