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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. (2017)

First Author: Nguyen TTM

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.2017.09.020

PubMed Identifier: 29100095

Publication URI: http://europepmc.org/abstract/MED/29100095

Type: Journal Article/Review

Volume: 101

Parent Publication: American journal of human genetics

Issue: 5

ISSN: 0002-9297