Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. (2021)

First Author: Chai G
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.neuron.2020.10.035

PubMed Identifier: 33220177

Publication URI: http://europepmc.org/abstract/MED/33220177

Type: Journal Article/Review

Volume: 109

Parent Publication: Neuron

Issue: 2

ISSN: 0896-6273