CFTR c.720_742del ;(p.G241Rfs*9)

Variant ID: 7-117175442-TAGGGAGAATGATGATGAAGTACA-T

NM_000492.3(CFTR):c.720_742del;(p.G241Rfs*9)

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: 720_742del
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
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