(PDF) De Novo Truncating Variants in theAHDC1gene Encoding

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

Cold Spring Harbor molecular case studies - United States

doi 10.1101/mcs.a000562

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September 24, 2015

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Cold Spring Harbor Laboratory

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De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

Cold Spring Harbor molecular case studies - United States

doi 10.1101/mcs.a000562

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies

De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance

Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Truncating Variants in P53AIP1 Disrupting DNA Damage-Induced Apoptosis Are Associated With Prostate Cancer Risk