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.




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
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