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NF1 c.3213_3214del ;(p.S1072Hfs*16)
Variant ID: 17-29559106-CAA-C
NM_001042492.2(
NF1
):c.3213_3214del;(p.S1072Hfs*16)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells.
Scientific Reports
Harigai, Ritsuko R; Sakai, Shigeki S; Nobusue, Hiroyuki H; Hirose, Chikako C; Sampetrean, Oltea O; Minami, Noriaki N; Hata, Yukie Y; Kasama, Takashi T; Hirose, Takanori T; Takenouchi, Toshiki T; Kosaki, Kenjiro K; Kishi, Kazuo K; Saya, Hideyuki H; Arima, Yoshimi Y
Publication Date: 2018-04-17
Variant appearance in text: NF1: 3213_3214delAA; Ser1072Hisfs*16
PubMed Link:
29666462
Variant Present in the following documents:
Main text
41598_2018_Article_24484.pdf
View BVdb publication page
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Genetic Testing And Molecular Biomarkers
Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K
Publication Date: 2014-11
Variant appearance in text: NF1: 3213_3214delAA; Ser1072Hisfs
PubMed Link:
25325900
Variant Present in the following documents:
Main text
View BVdb publication page