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GLA c.1045T>A ;(p.W349R)
Variant ID: X-100653042-A-T
NM_000169.2(
GLA
):c.1045T>A;(p.W349R)
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:
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Frontiers In Pediatrics
Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C
Publication Date: 2022
Variant appearance in text: GLA: W349R
PubMed Link:
35722479
Variant Present in the following documents:
Main text
fped-10-908657.pdf
View BVdb publication page
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Plos One
Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N
Publication Date: 2016
Variant appearance in text: GLA: 1045T>A; W349R
PubMed Link:
27560961
Variant Present in the following documents:
Main text
pone.0161330.pdf
View BVdb publication page