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CFTR c.1_2insCCTAC ;(p.M1?)
Variant ID: 7-117120149-A-ACCTAC
NM_000492.3(
CFTR
):c.1_2insCCTAC;(p.M1?)
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:
Medical genetics and genomic medicine in India: current status and opportunities ahead.
Molecular Genetics & Genomic Medicine
Aggarwal, Shagun S; Phadke, Shubha R SR
Publication Date: 2015-05
Variant appearance in text: N/A
PubMed Link:
26029702
Variant Present in the following documents:
View BVdb publication page
The curation of genetic variants: difficulties and possible solutions.
Genomics, Proteomics & Bioinformatics
Pandey, Kapil Raj KR; Maden, Narendra N; Poudel, Barsha B; Pradhananga, Sailendra S; Sharma, Amit Kumar AK
Publication Date: 2012-12
Variant appearance in text: CFTR: 1_2insCCTAC
PubMed Link:
23317699
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page