Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

Published 2016 View Full Article

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Title
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Authors
Keywords
TMTC3, cobblestone lissencephaly, alpha-dystroglycan, endoplasmic reticulum
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 99, Issue 5, Pages 1181-1189
Publisher
Elsevier BV
Online
2016-10-21
DOI
10.1016/j.ajhg.2016.09.007

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