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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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