Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE3
Variant:p.R53W
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PRICKLE3

NM_006150.5:p.R53W

Associated Papers

Optic neuropathy arising from the synergy between YARS2 and mitochondrial COX1 mutations.

Li H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Modifiers and their impact on inherited retinal diseases: a review.

Ford LM et al.

Ophthalmic Genetics, 2025

The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber's Hereditary Optic Neuropathy.

Layrolle P et al.

Biomedicines, 2024

Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.

Hu JL et al.

Journal of the Chinese Medical Association : Jcma, 2024

Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy.

Nie Z et al.

Human Molecular Genetics, 2023

Genetic basis of mitochondrial diseases.

Gusic M et al.

Febs Letters, 2021

Leber's Hereditary Optic Neuropathy: the roles of mitochondrial transfer RNA variants.

Ding Y et al.

Peerj, 2021

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.

Ji Y et al.

The Journal of Biological Chemistry, 2020

PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.

Yu J et al.

The Journal of Clinical Investigation, 2020

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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."