Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.Q28H
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HSD17B6

NM_003725.4:p.Q28H

Associated Papers

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Athanasiou D et al.

Progress in Retinal and Eye Research, 2018

Fatty Acid oxidation disorders in a chinese population in taiwan.

Chien YH et al.

Jimd Reports, 2013

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Liang WC et al.

Neuromuscular Disorders : Nmd, 2009

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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."