Publications:

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.

Renal Failure

Zhang, Ruixiao R; Chen, Zeqing Z; Lang, Yanhua Y; Shao, Shihong S; Cai, Yan Y; You, Qingqing Q; Sun, Yan Y; Wang, Sai S; Shi, Xiaomeng X; Liu, Zhiying Z; Guo, Wencong W; Han, Yue Y; Shao, Leping L

Publication Date: 2020-11

Variant appearance in text: GLA: Trp236Leu

PubMed Link: 32924720

Variant Present in the following documents:

• Main text
• IRNF_42_1818578.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: W236L

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: W236L

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: W236L

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page