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: G258V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Plos One

Ravarotto, Verdiana V; Carraro, Gianni G; Pagnin, Elisa E; Bertoldi, Giovanni G; Simioni, Francesca F; Maiolino, Giuseppe G; Martinato, Matteo M; Landini, Linda L; Davis, Paul A PA; Calò, Lorenzo A LA

Publication Date: 2018

Variant appearance in text: GLA: 773G>T

PubMed Link: 30261035

Variant Present in the following documents:

• Main text
• pone.0204618.pdf

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: G258V

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Pharmacological chaperone therapy for Fabry disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences

Ishii, Satoshi S

Publication Date: 2012

Variant appearance in text: GLA: G258V

PubMed Link: 22241068

Variant Present in the following documents:

• pjab-88-018.pdf

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