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CFTR c.2490_2490+1insT ;(p.E831*)
Variant ID: 7-117232711-G-GT
NM_000492.3(
CFTR
):c.2490_2490+1insT;(p.E831*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.
Annals Of Thoracic Medicine
Chami, Hassan H; Arbid, Samer Abou SA; Badra, Rebecca R; Farra, Chantal C
Publication Date: 2017
Variant appearance in text: CFTR: 2490insT
PubMed Link:
29118863
Variant Present in the following documents:
Main text
ATM-12-290.pdf
View BVdb publication page