Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing

Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported for cerebellar atrophy, visual impairment, ps...

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Bibliographic Details
Main Authors: Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2021-12-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
emc1
whole exome sequencing
cavipmr
brain mri
consanguinity
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=22311

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http://www.ejmanager.com/fulltextpdf.php?mno=22311

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