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NF1 c.2982del ;(p.L995Wfs*17)
Variant ID: 17-29556984-AT-A
NM_001042492.2(
NF1
):c.2982del;(p.L995Wfs*17)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Journal Of Biomedical Science
Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR
Publication Date: 2018-10-05
Variant appearance in text: NF1: 2982_2982delT; Leu995fs
PubMed Link:
30290804
Variant Present in the following documents:
Main text
View BVdb publication page