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: F383L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Human Mutation

Hwu, Wuh-Liang WL; Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chiang, Shu-Chuan SC; Dobrovolny, Robert R; Huang, Ai-Chu AC; Yeh, Hui-Ying HY; Chao, May-Chin MC; Lin, Shio-Jean SJ; Kitagawa, Teruo T; Desnick, Robert J RJ; Hsu, Li-Wen LW

Publication Date: 2009-10

Variant appearance in text: GLA: F383L

PubMed Link: 19621417

Variant Present in the following documents:

• Main text

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