F2 c.1861G>A ;(p.G621R)

Variant ID: 11-46760950-G-A

NM_000506.3(F2):c.1861G>A;(p.G621R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.

Iscience
Tominaga, Kana K; Tominaga, Naoomi N; Williams, Eric O EO; Rufibach, Laura L; Schöwel, Verena V; Spuler, Simone S; Viswanathan, Mohan M; Guarente, Leonard P LP
Publication Date: 2022-01-21

Variant appearance in text: F2: G621R
PubMed Link: 35028538
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page