Publications:

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Dutra-Clarke, Marina M; Tapia, Daisy D; Curtin, Emily E; Rünger, Dennis D; Lee, Grace K GK; Lakatos, Anita A; Alandy-Dy, Zyza Z; Freedkin, Linda L; Hall, Kathy K; Ercelen, Nesrin N; Alandy-Dy, Jousef J; Knight, Margaret M; Pahl, Madeleine M; Lombardo, Dawn D; Kimonis, Virginia V

Publication Date: 2021-03

Variant appearance in text: GLA: 983G>T; G328V

PubMed Link: 33437642

Variant Present in the following documents:

• Main text
• main.pdf

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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: G328V

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: G328V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: G328V

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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