GLA c.220G>A ;(p.E74K)

Variant ID: X-100658948-C-T

NM_000169.2(GLA):c.220G>A;(p.E74K)

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: E74K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Phosphate uptake-independent signaling functions of the type III sodium-dependent phosphate transporter, PiT-1, in vascular smooth muscle cells.

Experimental Cell Research
Chavkin, Nicholas W NW; Chia, Jia Jun JJ; Crouthamel, Matthew H MH; Giachelli, Cecilia M CM
Publication Date: 2015-04-10

Variant appearance in text: GLA: E74K
PubMed Link: 25684711
Variant Present in the following documents:
  • Main text
View BVdb publication page