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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. (2016)

First Author: McEntagart M

Attributed to: Establishing The Edinburgh Super-Resolution Imaging Consortium (ESRIC) funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2016.03.018

PubMed Identifier: 27108798

Publication URI: http://europepmc.org/abstract/MED/27108798

Type: Journal Article/Review

Volume: 98

Parent Publication: American journal of human genetics

Issue: 5

ISSN: 0002-9297