Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.P589L
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ATP6V0A2

NM_012463.4:p.P589L

Associated Papers

Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause.

Leinøe E et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024

39311717 (PubMed )
Supplement: HAE-30-1366-s001.pdf

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
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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."