Differential rates of germline heterozygote and mosaic variants in
Gene Frequency
Germ-Line Mutation
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
received:
25
09
2022
accepted:
22
12
2022
medline:
23
8
2023
pubmed:
5
1
2023
entrez:
4
1
2023
Statut:
ppublish
Résumé
NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours of the nervous system, especially schwannomas. This results from germline pathogenic variants in the
Identifiants
pubmed: 36599646
pii: jmg-2022-108960
doi: 10.1136/jmg-2022-108960
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
838-841Subventions
Organisme : Department of Health
ID : IS-BRC-1215-20007
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: DGE is an National Institute for Health Research senior investigator.