A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. (2023)
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.gim.2023.100018
PubMed Identifier: 36681873
Publication URI: http://europepmc.org/abstract/MED/36681873
Type: Journal Article/Review
Volume: 25
Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics
Issue: 4
ISSN: 1098-3600