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.




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