Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

出版年份 2016 全文链接

标题

作者

关键词

Whole-exome sequencing, EMC1, endoplasmic reticulum (ER)-membrane complex, mitochondrial membrane, inter-organellar communication, intracellular transport, neurodegeneration, cerebellar atrophy

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 98, Issue 3, Pages 562-570

出版商

Elsevier BV

发表日期

2016-03-04

DOI

10.1016/j.ajhg.2016.01.011

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