Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities-Reference-Cited by-同舟云学术

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Published:2020-02 Issue:2 Volume:106 Page:246-255
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Wagner Matias,Skorobogatko Yuliya,Pode-Shakked Ben,Powell Cynthia M.,Alhaddad Bader,Seibt Annette,Barel Ortal,Heimer Gali,Hoffmann Chen,Demmer Laurie A.,Perilla-Young Yezmin,Remke Marc,Wieczorek Dagmar,Navaratnarajah Tharsini,Lichtner Peter,Klee Dirk,Shamseldin Hanan E.,Al Mutairi Fuad,Mayatepek Ertan,Strom Tim,Meitinger Thomas,Alkuraya Fowzan S.,Anikster Yair,Saltiel Alan R.,Distelmaier Felix

Funder

German Research Foundation/Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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