CFTR c.1223_1224delinsGT ;(p.L408C)

Variant ID: 7-117188708-TA-GT

NM_000492.3(CFTR):c.1223_1224delinsGT;(p.L408C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating.

The Journal Of Biological Chemistry
He, Lihua L; Aleksandrov, Andrei A AA; Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Luba A LA; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-09-26

Variant appearance in text: CFTR: L408C
PubMed Link: 18658148
Variant Present in the following documents:
  • Main text
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