(PDF) Rare De Novo Missense Variants in RNA Helicase DDX6

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2019.07.010

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Amanote Research

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2019.07.010

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Related search

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

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

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability

Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation

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

MED13L-related Intellectual Disability: Involvement of Missense Variants and Delineation of the Phenotype

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