Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K168N
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GLA

NM_000169.3:p.K168N

Associated Papers

Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.

Ducatez F et al.

Journal of Personalized Medicine, 2021

34575675 (PubMed )
Supplement: jpm-11-00898-s001.zip › Ducatez_et_al_supp_data_fabomics_20210731.xlsx › Table_S2

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

Fabry disease.

Germain DP

Orphanet Journal of Rare Diseases, 2010

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