Varaico: Literature-Extracted Genetic Variants

Gene:HVCN1
Variant:p.V179E
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HVCN1

NM_032369.4:p.V179E

Associated Papers

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali L et al.

Plos Genetics, 2018

29444077 (PubMed )
Supplement: pgen.1007210.s007.docx
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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."