Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.M1I
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HSD17B6

NM_003725.4:p.M1I

Associated Papers

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

INS-gene mutations: from genetics and beta cell biology to clinical disease.

Liu M et al.

Molecular Aspects of Medicine, 2015

Search for novel candidate mutations for metronidazole resistance in Helicobacter pylori using next-generation sequencing.

Binh TT et al.

Antimicrobial Agents and Chemotherapy, 2015

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A et al.

Orphanet Journal of Rare Diseases, 2014

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 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."