The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
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Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile SeizuresDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeHigh-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE.Estimating the selective effects of heterozygous protein-truncating variants from human exome data.GeMSTONE: orchestrated prioritization of human germline mutations in the cloudOptimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease.Dosage compensation of the sex chromosomes and autosomes.Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Functional mapping and annotation of genetic associations with FUMA.A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
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P2860
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
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2015 nî lūn-bûn
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
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2015年論文
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2015年论文
@wuu
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name
The Intolerance of Regulatory ...... dicts Gene Dosage Sensitivity.
@ast
The Intolerance of Regulatory ...... dicts Gene Dosage Sensitivity.
@en
type
label
The Intolerance of Regulatory ...... dicts Gene Dosage Sensitivity.
@ast
The Intolerance of Regulatory ...... dicts Gene Dosage Sensitivity.
@en
prefLabel
The Intolerance of Regulatory ...... dicts Gene Dosage Sensitivity.
@ast
The Intolerance of Regulatory ...... dicts Gene Dosage Sensitivity.
@en
P2093
P2860
P50
P1433
P1476
The Intolerance of Regulatory ...... dicts Gene Dosage Sensitivity.
@en
P2093
Ayal B Gussow
David B Goldstein
Quanli Wang
P2860
P304
P356
10.1371/JOURNAL.PGEN.1005492
P577
2015-09-02T00:00:00Z