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: E338K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.

Journal Of The American Heart Association

Yogasundaram, Haran H; Nikhanj, Anish A; Putko, Brendan N BN; Boutin, Michel M; Jain-Ghai, Shailly S; Khan, Aneal A; Auray-Blais, Christiane C; West, Michael L ML; Oudit, Gavin Y GY

Publication Date: 2018-11-06

Variant appearance in text: GLA: E338K

PubMed Link: 30571380

Variant Present in the following documents:

• Main text
• JAH3-7-e009098.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: E338K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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