Varaico: Literature-Extracted Genetic Variants

Gene:ASPG
Variant:p.V62A
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ASPG

NM_001080464.3:p.V62A

Associated Papers

Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report.

Finsterer J et al.

Cureus, 2023

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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."