Identification of an
NF1 gene
NF1 microdeletion
OGM
copy number variation
optical genome mapping
structural variation
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
01 Sep 2023
01 Sep 2023
Historique:
received:
29
06
2023
revised:
18
08
2023
accepted:
29
08
2023
medline:
11
9
2023
pubmed:
9
9
2023
entrez:
9
9
2023
Statut:
epublish
Résumé
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5-10% of the cases are caused by
Identifiants
pubmed: 37686382
pii: ijms241713580
doi: 10.3390/ijms241713580
pmc: PMC10487413
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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