Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. (2023)

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1136/jmg-2023-109362

PubMed Identifier: 37558402

Publication URI: http://europepmc.org/abstract/MED/37558402

Type: Journal Article/Review

Volume: 60

Parent Publication: Journal of medical genetics

Issue: 12

ISSN: 0022-2593