Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.R278*
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HSD17B6

NM_003725.4:p.R278*

Associated Papers

Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.

Lim HY et al.

Korean Journal of Ophthalmology : Kjo, 2024

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

Gershoni-Baruch R et al.

American Journal of Human Genetics, 1994

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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."