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TG c.2589_2599del ;(p.E864Lfs*27)
Variant ID: 8-133900641-TGGAGCCCTACC-T
NM_003235.4(
TG
):c.2589_2599del;(p.E864Lfs*27)
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:
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Plos One
Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G
Publication Date: 2016
Variant appearance in text: TG: 2589_2599del
PubMed Link:
26900683
Variant Present in the following documents:
Main text
pone.0149426.pdf
View BVdb publication page
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014
Variant appearance in text: TG: 2589_2599del
PubMed Link:
24586523
Variant Present in the following documents:
Main text
View BVdb publication page