Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G328W
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GLA

NM_000169.3:p.G328W

Associated Papers

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 › Unknown

X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease.

Germain DP et al.

La Revue De Medecine Interne, 2010

Fabry disease.

Germain DP

Orphanet Journal of Rare Diseases, 2010

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