Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.A115V
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AASS

NM_005763.4:p.A115V

Associated Papers

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P et al.

Brain : a Journal of Neurology, 2010

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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."