GLA c.667T>A ;(p.C223S)

Variant ID: X-100653907-A-T

NM_000169.2(GLA):c.667T>A;(p.C223S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: C223S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Definition of Proteasomal Peptide Splicing Rules for High-Efficiency Spliced Peptide Presentation by MHC Class I Molecules.

Journal Of Immunology (Baltimore, Md. : 1950)
Berkers, Celia R CR; de Jong, Annemieke A; Schuurman, Karianne G KG; Linnemann, Carsten C; Meiring, Hugo D HD; Janssen, Lennert L; Neefjes, Jacques J JJ; Schumacher, Ton N M TN; Rodenko, Boris B; Ovaa, Huib H
Publication Date: 2015-11-01

Variant appearance in text: GLA: C223S
PubMed Link: 26401003
Variant Present in the following documents:
  • Main text
View BVdb publication page