POGZ truncating alleles cause syndromic intellectual disability.
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ.Examining non-LTR retrotransposons in the context of the evolving primate brain.Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Insight into the molecular genetics of myopia.Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
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P2860
POGZ truncating alleles cause syndromic intellectual disability.
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2016 nî lūn-bûn
@nan
2016年の論文
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2016年学术文章
@wuu
2016年学术文章
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2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
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2016年學術文章
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2016年學術文章
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2016年學術文章
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name
POGZ truncating alleles cause syndromic intellectual disability.
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POGZ truncating alleles cause syndromic intellectual disability.
@en
type
label
POGZ truncating alleles cause syndromic intellectual disability.
@ast
POGZ truncating alleles cause syndromic intellectual disability.
@en
prefLabel
POGZ truncating alleles cause syndromic intellectual disability.
@ast
POGZ truncating alleles cause syndromic intellectual disability.
@en
P2093
P2860
P1433
P1476
POGZ truncating alleles cause syndromic intellectual disability
@en
P2093
Apostolos Psychogios
Arthur L Beaudet
Christine Eng
Christine R Beck
Daniel K Arrington
Donna M Muzny
Eric Boerwinkle
James R Lupski
Janice A Baker
P2860
P2888
P356
10.1186/S13073-015-0253-0
P577
2016-01-06T00:00:00Z
P5875
P6179
1048556530