APC c.3991_3992inv ;(p.R1331L)

Variant ID: 5-112175282-AG-CT

NM_000038.5(APC):c.3991_3992inv;(p.R1331L)

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: APC: R1331L
PubMed Link: 35028538
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page