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CFTR c.85A>T ;(p.R29*)
Variant ID: 7-117144338-A-T
NM_000492.3(
CFTR
):c.85A>T;(p.R29*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pharmacological approaches for targeting cystic fibrosis nonsense mutations.
European Journal Of Medicinal Chemistry
Sharma, Jyoti J; Keeling, Kim M KM; Rowe, Steven M SM
Publication Date: 2020-08-15
Variant appearance in text: CFTR: R29X
PubMed Link:
32512483
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.
International Journal Of Molecular Sciences
Balestra, Dario D; Branchini, Alessio A
Publication Date: 2019-06-21
Variant appearance in text: CFTR: R29X
PubMed Link:
31234407
Variant Present in the following documents:
Main text
ijms-20-03036.pdf
View BVdb publication page