GLA c.424_425delinsGC ;(p.C142A)

Variant ID: X-100656742-CA-GC

NM_000169.2(GLA):c.424_425delinsGC;(p.C142A)

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: C142A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



NleG Type 3 effectors from enterohaemorrhagic Escherichia coli are U-Box E3 ubiquitin ligases.

Plos Pathogens
Wu, Bin B; Skarina, Tatiana T; Yee, Adelinda A; Jobin, Marie-Claude MC; Dileo, Rosa R; Semesi, Anthony A; Fares, Christophe C; Lemak, Alexander A; Coombes, Brian K BK; Arrowsmith, Cheryl H CH; Singer, Alexander U AU; Savchenko, Alexei A
Publication Date: 2010-06-24

Variant appearance in text: GALA: C142A
PubMed Link: 20585566
Variant Present in the following documents:
  • Main text
  • ppat.1000960.pdf
View BVdb publication page