Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
MLPA
NF1
NGS
brain tumor
cDNA sequencing
genotype–phenotype correlations
neurofibromatosis type I
splicing
stop-gain
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
14 Apr 2021
14 Apr 2021
Historique:
received:
05
03
2021
revised:
10
04
2021
accepted:
12
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
1
5
2021
Statut:
epublish
Résumé
Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in
Identifiants
pubmed: 33919865
pii: cancers13081879
doi: 10.3390/cancers13081879
pmc: PMC8070780
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Italian Ministry of Health.
ID : 'Ricerca Corrente Ministeriale 2019'
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