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GLA c.831G>A ;(p.W277*)
Variant ID: X-100653526-C-T
NM_000169.2(
GLA
):c.831G>A;(p.W277*)
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:
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.
Current Health Sciences Journal
Militaru, S S; Adam, R R; Ismail, G G; Rusu, E E; Dulămea, A A; Jurcut, R R
Publication Date: 2019
Variant appearance in text: GLA: W277*
PubMed Link:
32042454
Variant Present in the following documents:
Main text
CHSJ-45-3-272.pdf
View BVdb publication page
Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.
Plos One
Nakano, Sachie S; Tsukimura, Takahiro T; Togawa, Tadayasu T; Ohashi, Toya T; Kobayashi, Masahisa M; Takayama, Katsuyoshi K; Kobayashi, Yukuharu Y; Abiko, Hiroshi H; Satou, Masatsugu M; Nakahata, Tohru T; Warnock, David G DG; Sakuraba, Hitoshi H; Shibasaki, Futoshi F
Publication Date: 2015
Variant appearance in text: GLA: W277X
PubMed Link:
26083343
Variant Present in the following documents:
Main text
pone.0128351.pdf
View BVdb publication page