Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.R227*
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EPHA3

NM_005233.6:p.R227*

Associated Papers

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

Giugliani R et al.

Molecular Genetics and Metabolism, 2013

Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.

Cheng T et al.

Asian Journal of Andrology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."