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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RDH11

Variant:p.C72*

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RDH11

NM_016026.4:p.C72*

hg38:chr14:67692571 G>T

Associated Papers

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype.

Stephenson KAJ et al.

Clinical Genetics, 2025

41459630 (PubMed )

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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."