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

First Author: Töpf A

Attributed to: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases funded by MRC

Abstract

No abstract provided

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

Parent Publication: European Journal of Human Genetics

Issue: 9

ISSN: 1018-4813