CFTR c.1951_1953delinsTAA ;(p.D651*)

Variant ID: 7-117232172-GAC-TAA

NM_000492.3(CFTR):c.1951_1953delinsTAA;(p.D651*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The first-nucleotide binding domain of the cystic-fibrosis transmembrane conductance regulator is important for inhibition of the epithelial Na+ channel.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schreiber, R R; Hopf, A A; Mall, M M; Greger, R R; Kunzelmann, K K
Publication Date: 1999-04-27

Variant appearance in text: CFTR: D651X
PubMed Link: 10220462
Variant Present in the following documents:
  • Main text
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