CFTR c.157T>G ;(p.L53V)

Variant ID: 7-117144410-T-G

NM_000492.3(CFTR):c.157T>G;(p.L53V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: L53V
PubMed Link: 35072004
Variant Present in the following documents:
  • Main text
  • main.pdf
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