Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Item
http://www.wikidata.org/entity/Q31159863
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.Sources of discordance among germ-line variant classifications in ClinVar.Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.GREM2 nucleotide variants and the risk of tooth agenesis.TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.Opportunities and Challenges for Genetic Studies of End-Stage Renal Disease in CanadaIdentification of Misclassified ClinVar Variants via Disease Population PrevalenceSearching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencingWhole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle EastExpanding the clinical phenotype of IARS2-related mitochondrial disease
P2860

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Item
http://www.wikidata.org/entity/Q31159863
description
2017 nî lūn-bûn
@nan
2017 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
name
Pathogenic variant burden in t ...... inical variant interpretation.
@ast
Pathogenic variant burden in t ...... inical variant interpretation.
@en
type
label
Pathogenic variant burden in t ...... inical variant interpretation.
@ast
Pathogenic variant burden in t ...... inical variant interpretation.
@en
prefLabel
Pathogenic variant burden in t ...... inical variant interpretation.
@ast
Pathogenic variant burden in t ...... inical variant interpretation.
@en
P1433
P1476
P2093
P2860
P2888
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P31
P356
P433
P478
P50
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P6179
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Pathogenic variant burden in t ...... linical variant interpretation
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932