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NF1 c.703_704del ;(p.Y235Pfs*6)
Variant ID: 17-29508776-GTA-G
NM_001042492.2(
NF1
):c.703_704del;(p.Y235Pfs*6)
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:
A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1.
International Journal Of Ophthalmology
Chen, Jun J; Guo, Bo B; Ren, Min M; Lin, Hong H; Zhang, Xin X; Chen, Si-Yi SY; Yu, Xiao-Tian XT; Xu, Zhu-Ping ZP
Publication Date: 2018
Variant appearance in text: NF1: 703_704delTA
PubMed Link:
30225235
Variant Present in the following documents:
Main text
View BVdb publication page