Varaico: Literature-Extracted Genetic Variants

Gene:ATP6AP1
Variant:p.L444P
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ATP6AP1

NM_001183.6:p.L444P

Associated Papers

Gaucher disease protects against tuberculosis.

Fan J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36745788 (PubMed )
Supplement: pnas.2217673120.sapp.pdf

Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease.

García-Moreno MI et al.

Journal of Medicinal Chemistry, 2017

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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."