Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.R80Q
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HTRA2

NM_013247.5:p.R80Q

Associated Papers

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K et al.

American Journal of Human Genetics, 2016

27693233 (PubMed )
Supplement: mmc2.pdf
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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."