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NF1 c.1693dup ;(p.A565Gfs*10)
Variant ID: 17-29548918-T-TG
NM_001042492.2(
NF1
):c.1693dup;(p.A565Gfs*10)
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: 1693dupG
PubMed Link:
30290804
Variant Present in the following documents:
Main text
View BVdb publication page