Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Published 2017 View Full Article

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Title
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
Authors
Keywords
Inositol 1,4,5 tri-phosphate receptor (InsP3) type 1 (ITPR1), Partial aniridia, Cerebellar atrophy, Intellectual disability
Journal
GENE
Volume 628, Issue -, Pages 141-145
Publisher
Elsevier BV
Online
2017-07-09
DOI
10.1016/j.gene.2017.07.017

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