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: D92Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: D92Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

Jimd Reports

Liu, Hao-Chuan HC; Perrin, Amandine A; Hsu, Ting-Rong TR; Yang, Chia-Feng CF; Lin, Hsiang-Yu HY; Yu, Wen-Chung WC; Niu, Dau-Ming DM

Publication Date: 2015

Variant appearance in text: GLA: 274G>T; D92Y

PubMed Link: 25762495

Variant Present in the following documents:

• Main text

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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: D92Y

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 274G>T; D92Y

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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