CFTR c.3713A>G ;(p.Q1238R)

Variant ID: 7-117267820-A-G

NM_000492.3(CFTR):c.3713A>G;(p.Q1238R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
Publication Date: 2010-09

Variant appearance in text: CFTR: 3713A>G
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page