Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.E88G
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HSD17B6

NM_003725.4:p.E88G

Associated Papers

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review).

Jiménez-Morales S et al.

International Journal of Oncology, 2018

A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.

Chen FL et al.

Mutation Research, 2006

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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."