CFTR c.687C>A ;(p.F229L)

Variant ID: 7-117175409-C-A

NM_000492.3(CFTR):c.687C>A;(p.F229L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.

The Journal Of Physiology
Cai, Zhiwei Z; Palmai-Pallag, Timea T; Khuituan, Pissared P; Mutolo, Michael J MJ; Boinot, Clément C; Liu, Beihui B; Scott-Ward, Toby S TS; Callebaut, Isabelle I; Harris, Ann A; Sheppard, David N DN
Publication Date: 2015-06-01

Variant appearance in text: CFTR: F229L
PubMed Link: 25763566
Variant Present in the following documents:
  • Main text
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