Publications:

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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Plos One

Effraimidis, Grigoris G; Rasmussen, Åse Krogh ÅK; Dunoe, Morten M; Hasholt, Lis F LF; Wibrand, Flemming F; Sorensen, Soren S SS; Lund, Allan M AM; Kober, Lars L; Bundgaard, Henning H; Yazdanfard, Puriya D W PDW; Oturai, Peter P; Larsen, Vibeke A VA; de Abreu, Vitor Hugo Fraga VHF; Enevoldsen, Lotte Hahn LH; Kristensen, Tatiana T; Svenstrup, Kirsten K; Bille, Margrethe Bastholm MB; Arif, Farah F; Mogensen, Mette M; Klokker, Mads M; Backer, Vibeke V; Kistorp, Caroline C; Feldt-Rasmussen, Ulla U

Publication Date: 2022

Variant appearance in text: GLA: 782G>A; G261D

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

View BVdb publication page

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Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.

Molecular Genetics & Genomic Medicine

Luo, Yi Y; Wu, Di D; Shen, Min M

Publication Date: 2020-10

Variant appearance in text: GLA: 782G>A; G261D

PubMed Link: 32797665

Variant Present in the following documents:

• Main text
• MGG3-8-e1454.pdf

View BVdb publication page

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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: G261D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

Current Genomics

Wu, Yuan Y; Xia, Hong H; Yuan, Jinzhong J; Xu, Hongbo H; Deng, Xiong X; Liu, Jun J; Zhang, Hao H; Deng, Hao H

Publication Date: 2018-01

Variant appearance in text: GLA: 782G>A; G261D

PubMed Link: 29491734

Variant Present in the following documents:

• Main text
• CG-19-70.pdf

View BVdb publication page

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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.

Plos One

Fall, Brent B; Scott, C Ronald CR; Mauer, Michael M; Shankland, Stuart S; Pippin, Jeffrey J; Jefferson, Jonathan A JA; Wallace, Eric E; Warnock, David D; Najafian, Behzad B

Publication Date: 2016

Variant appearance in text: GLA: G261D

PubMed Link: 27992580

Variant Present in the following documents:

• Main text
• pone.0168346.pdf

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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: G261D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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