Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D322N
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GLA

NM_000169.3:p.D322N

Associated Papers

Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.

Schindehütte M et al.

Brain Communications, 2024

38751382 (PubMed )
Supplement: fcae155_supplementary_data.pdf

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

Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.

Niemann M et al.

Circulation. Cardiovascular Genetics, 2014

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