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