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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome (2015)

First Author: Thomas A

Attributed to: Nudc as a new molecular target to investigate the pathogenesis and treatment of skeletal ciliopathies. funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2015.05.010

Publication URI: http://dx.doi.org/10.1016/j.ajhg.2015.05.010

Type: Journal Article/Review

Parent Publication: The American Journal of Human Genetics

Issue: 6

ISSN: 0002-9297