Varaico: Literature-Extracted Genetic Variants

Gene:RDH8
Variant:p.C79C
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RDH8

NM_015725.4:p.C79C

Associated Papers

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Perrault I et al.

American Journal of Human Genetics, 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."