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SI c.1204C>T ;(p.Q402*)
Variant ID: 3-164777030-G-A
NM_001041.3(
SI
):c.1204C>T;(p.Q402*)
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:
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.
Bmc Pediatrics
Bekiesinska-Figatowska, Monika M; Duczkowski, Marek M; Duczkowska, Agnieszka A; Taybert, Joanna J; Krzywdzinska, Amanda A; Sykut-Cegielska, Jolanta J
Publication Date: 2021-03-27
Variant appearance in text: SI: 1204C>T
PubMed Link:
33773571
Variant Present in the following documents:
12887_2021_Article_2603.pdf
View BVdb publication page
Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.
Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09
Variant appearance in text: SI: 1204C>T; Q402*
PubMed Link:
32646514
Variant Present in the following documents:
13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page