Publications:

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M

Publication Date: 2020-04

Variant appearance in text: GLA: 646T>G; Tyr216Asp

PubMed Link: 32127409

Variant Present in the following documents:

• Main text

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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: Y216D

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: Y216D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease.

Plos One

Mauer, Michael M; Glynn, Emily E; Svarstad, Einar E; Tøndel, Camilla C; Gubler, Marie-Claire MC; West, Michael M; Sokolovskiy, Alexey A; Whitley, Chester C; Najafian, Behzad B

Publication Date: 2014

Variant appearance in text: GLA: Y216D

PubMed Link: 25386848

Variant Present in the following documents:

• Main text
• pone.0112188.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: Y216D

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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