F2 c.292G>T ;(p.D98Y)

Variant ID: 11-46742366-G-T

NM_000506.3(F2):c.292G>T;(p.D98Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

Nature Communications
Martin, Paige B PB; Kigoshi-Tansho, Yu Y; Sher, Roger B RB; Ravenscroft, Gianina G; Stauffer, Jennifer E JE; Kumar, Rajesh R; Yonashiro, Ryo R; Müller, Tina T; Griffith, Christopher C; Allen, William W; Pehlivan, Davut D; Harel, Tamar T; Zenker, Martin M; Howting, Denise D; Schanze, Denny D; Faqeih, Eissa A EA; Almontashiri, Naif A M NAM; Maroofian, Reza R; Houlden, Henry H; Mazaheri, Neda N; Galehdari, Hamid H; Douglas, Ganka G; Posey, Jennifer E JE; Ryan, Monique M; Lupski, James R JR; Laing, Nigel G NG; Joazeiro, Claudio A P CAP; Cox, Gregory A GA
Publication Date: 2020-09-15

Variant appearance in text: F2: D98Y
PubMed Link: 32934225
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18327.pdf
View BVdb publication page