Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant. (2022)
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/10.1016/j.ejmg.2021.104402
PubMed Identifier: 34863918
Publication URI: http://europepmc.org/abstract/MED/34863918
Type: Journal Article/Review
Volume: 65
Parent Publication: European journal of medical genetics
Issue: 1
ISSN: 1769-7212