Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.M1I
Back to variants list

HSD17B6

NM_003725.4:p.M1I

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."