Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.L575Splc
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ATP6V0A2

NM_012463.4:p.L575Splc

Associated Papers

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

Scimeca JC et al.

Human Mutation, 2003

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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."