Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.T145I
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HSD17B6

NM_003725.4:p.T145I

Associated Papers

Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.

Jaokar TM et al.

Biochimie, 2013

Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.

Dekker J et al.

Blood, 2001

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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."