Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E341fs
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GLA

NM_000169.3:p.E341fs

Associated Papers

Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.

Ducatez F et al.

Journal of Personalized Medicine, 2021

34575675 (PubMed )
Supplement: jpm-11-00898-s001.zip › Ducatez_et_al_supp_data_fabomics_20210731.xlsx › Table_S2

Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Sawada T et al.

Molecular Genetics & Genomic Medicine, 2020

Fabry disease screening in high-risk populations in Japan: a nationwide study.

Yoshida S et al.

Orphanet Journal of Rare Diseases, 2020

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Mauhin W et al.

Plos One, 2020

32442237 (PubMed )
Supplement: pone.0233460.s001.xlsx › Feuil1
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