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Paper Details

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
Neurology
28
2012
52 genes, G262V, GLB1, GLB1 variants, GM1, GM1-gangliosidosis, c, c.602G>A, c.785G>T, galactose, gene, homozygous variants, juvenile-onset neurodegeneration, motor and cognitive decline, neurodegeneration, neurodegeneration-associated genes, p.G262V, p.R201H, patient, patients, woman

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