CFTR c.1652del ;(p.G551Vfs*8)

Variant ID: 7-117227858-AG-A

NM_000492.3(CFTR):c.1652del;(p.G551Vfs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Journal Of Reproduction & Infertility
Karimi, Nasibeh N; Alibakhshi, Reza R; Almasi, Shekoufeh S
Publication Date: 2018

Variant appearance in text: CFTR: 1652del
PubMed Link: 29850441
Variant Present in the following documents:
  • Main text
  • JRI-19-3.pdf
View BVdb publication page



A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd
Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR
Publication Date: 2006-02

Variant appearance in text: CFTR: 1652del
PubMed Link: 16436643
Variant Present in the following documents:
  • Main text
View BVdb publication page