(PDF) Bi-Allelic TMEM94 Truncating Variants Are Associated

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

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.11.001

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Date

December 1, 2018

Authors

Siddaramappa J. Patil

Julian A. Martinez-Agosto

Stanley F. Nelson

Fowzan S. Alkuraya

William A. Gahl

May Christine V. Malicdan

Publisher

Elsevier BV

Amanote Research

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

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.11.001

Full Text

Abstract

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Date

Authors

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