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GC c.127_128delinsTC ;(p.L43S)
Variant ID: 4-72635048-AG-GA
NM_000583.3(
GC
):c.127_128delinsTC;(p.L43S)
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:
HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.
Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22
Variant appearance in text: GC: L43S
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Genetics of pulmonary hypertension.
Annals Of Thoracic Medicine
Pasha, Qadar Q
Publication Date: 2014-07
Variant appearance in text: GC: L43S
PubMed Link:
25076992
Variant Present in the following documents:
Main text
ATM-9-16.pdf
View BVdb publication page