Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy. (2024)
Attributed to:
Rare Disease Research Platform: The renal ciliopathies national network (RCNN)
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.gimo.2024.101834
PubMed Identifier: 39669628
Publication URI: http://europepmc.org/abstract/MED/39669628
Type: Journal Article/Review
Volume: 2
Parent Publication: Genetics in medicine open
ISSN: 2949-7744