Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.M1T
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HSD17B6

NM_003725.4:p.M1T

Associated Papers

Predicting nitroimidazole antibiotic resistance mutations in Mycobacterium tuberculosis with protein engineering.

Lee BM et al.

Plos Pathogens, 2020

Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.

Tavares WC et al.

Plos One, 2017

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA et al.

Human Molecular Genetics, 2005

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.

Costa-Santos M et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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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."