Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.Y281H
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HSD17B6

NM_003725.4:p.Y281H

Associated Papers

Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.

Daich Varela M et al.

Ophthalmology. Retina, 2024

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.

Nakamura M et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2003

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.

Lidén M et al.

The Journal of Biological Chemistry, 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."