Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). (2021)

Abstract

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Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41431-021-00851-8

PubMed Identifier: 34075209

Publication URI: http://europepmc.org/abstract/MED/34075209

Type: Journal Article/Review

Volume: 29

Parent Publication: European journal of human genetics : EJHG

Issue: 9

ISSN: 1018-4813