Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.R70K
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HSD17B6

NM_003725.4:p.R70K

Associated Papers

Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family.

Swerdlow RH et al.

Annals of Neurology, 1998

Conversion of arginine to lysine at position 70 of human dihydrofolate reductase: generation of a methotrexate-insensitive mutant enzyme.

Thompson PD et al.

Biochemistry, 1991

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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."