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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII a1 Chain. (2015)

First Author: Logan CV

Attributed to: Ciliopathy disease gene identification by whole exome medical resequencing funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2015.10.017

PubMed Identifier: 26626625

Publication URI: http://europepmc.org/abstract/MED/26626625

Type: Journal Article/Review

Volume: 97

Parent Publication: American journal of human genetics

Issue: 6

ISSN: 0002-9297