Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L386F
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RPE65

NM_000329.3:p.L386F

Associated Papers

Mechanism of Lutein to meso-Zeaxanthin Isomerization by RPE65 Catalysis.

Ballinger A et al.

Biorxiv : the Preprint Server for Biology, 2025

41415389 (PubMed )
Supplement: media-1.pdf

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

Méjécase C et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

32783370 (PubMed )
Supplement: AJMG-184-762-s001.docx

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Wert KJ et al.

Human Mutation, 2019

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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."