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: W226C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.

Scientific Reports

Hernández-Romero, Diana D; Sánchez-Quiñones, Jessica J; Vílchez, Juan Antonio JA; Rivera-Caravaca, José Miguel JM; de la Morena, Gonzalo G; Lip, Gregory Y H GYH; Climent, Vicente V; Marín, Francisco F

Publication Date: 2019-04-17

Variant appearance in text: GLA: W226C

PubMed Link: 30996283

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42727.pdf

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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Molecular Genetics And Metabolism

Ferreira, Susana S; Ortiz, Alberto A; Germain, Dominique P DP; Viana-Baptista, Miguel M; Caldeira-Gomes, António A; Camprecios, Marta M; Fenollar-Cortés, Maria M; Gallegos-Villalobos, Ángel Á; Garcia, Diego D; García-Robles, José Antonio JA; Egido, Jesús J; Gutiérrez-Rivas, Eduardo E; Herrero, José Antonio JA; Mas, Sebastián S; Oancea, Raluca R; Péres, Paloma P; Salazar-Martín, Luis Manuel LM; Solera-Garcia, Jesús J; Alves, Helena H; Garman, Scott C SC; Oliveira, João Paulo JP

Publication Date: 2015-02

Variant appearance in text: GLA: Trp226Cys

PubMed Link: 25468652

Variant Present in the following documents:

• Main text

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