Varaico: Literature-Extracted Genetic Variants

Gene:ATP6AP1
Variant:p.S129T
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ATP6AP1

NM_001183.6:p.S129T

Associated Papers

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M et al.

Journal of Medical Genetics, 2018

29437868 (PubMed )
Supplement: jmedgenet-2017-104863supp001.pdf
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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."