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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (2014)

First Author: Cottenie E

Attributed to: Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis - The International IBM Consortium Genetic Study funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2014.10.002

PubMed Identifier: 25439726

Publication URI: http://europepmc.org/abstract/MED/25439726

Type: Journal Article/Review

Volume: 95

Parent Publication: American journal of human genetics

Issue: 5

ISSN: 0002-9297