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: L387P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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The importance of medical interview with CKD patient in diagnoses of a family with Fabry disease.

Cen Case Reports

Sakamaki, Yuichi Y; Maruyama, Hiroki H; Homma, Noriyuki N; Nakamura, Gen G; Ito, Eiichi E; Makino, Kunihiko K; Yoshita, Kazuhiro K; Ito, Yumi Y; Osawa, Yutaka Y; Imai, Naofumi N; Ueno, Mitsuhiro M; Miyazaki, Shigeru S; Narita, Ichiei I

Publication Date: 2014-11

Variant appearance in text: GLA: L387P

PubMed Link: 28509189

Variant Present in the following documents:

• Main text

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