F8 c.1789_1790insA ;(p.V597Dfs*3)

Variant ID: X-154182280-A-AT

NM_000132.3(F8):c.1789_1790insA;(p.V597Dfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Yonsei Medical Journal
Park, Hyung Jun HJ; Jang, Hoon H; Lee, Jung Hwan JH; Shin, Ha Young HY; Cho, Sung Rae SR; Park, Kee Duk KD; Bang, Duhee D; Lee, Min Goo MG; Kim, Seung Min SM; Lee, Ji Hyun JH; Choi, Young Chul YC
Publication Date: 2016-01

Variant appearance in text: F8: 1789_1790insA
PubMed Link: 26632398
Variant Present in the following documents:
  • Main text
View BVdb publication page