A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. (2021)

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41431-020-00717-5

PubMed Identifier: 32901138

Publication URI: http://europepmc.org/abstract/MED/32901138

Type: Journal Article/Review

Volume: 29

Parent Publication: European journal of human genetics : EJHG

Issue: 2

ISSN: 1018-4813