Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L310R
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GLA

NM_000169.3:p.L310R

Associated Papers

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

Guo W et al.

Journal of Advanced Research, 2026

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic

[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].

Meng Y et al.

Zhonghua Yi Xue Za Zhi, 2010

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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."