Identification of Germinal Neurofibromin Hotspots.
NF1
germinal variants
neurofibromatosis type 1
neurofibromin
pathogenic variants
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
21 Aug 2022
21 Aug 2022
Historique:
received:
27
07
2022
accepted:
19
08
2022
entrez:
26
8
2022
pubmed:
27
8
2022
medline:
27
8
2022
Statut:
epublish
Résumé
Neurofibromin is engaged in many cellular processes and when the proper protein functioning is impaired, it causes neurofibromatosis type 1 (
Identifiants
pubmed: 36009591
pii: biomedicines10082044
doi: 10.3390/biomedicines10082044
pmc: PMC9405573
pii:
doi:
Types de publication
Journal Article
Langues
eng
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