Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood-Reference-Cited by-同舟云学术

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

Published:2017-08 Issue:2 Volume:101 Page:267-273
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Edvardson Simon,Nicolae Claudia M.,Agrawal Pankaj B.,Mignot Cyril,Payne Katelyn,Prasad Asuri Narayan,Prasad Chitra,Sadler Laurie,Nava Caroline,Mullen Thomas E.,Begtrup Amber,Baskin Berivan,Powis Zöe,Shaag Avraham,Keren Boris,Moldovan George-Lucian,Elpeleg Orly

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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