Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.R142Q
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PRPH2

NM_000322.5:p.R142Q

Associated Papers

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Peeters MHCA et al.

Human Mutation, 2021

Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.

Reeves MJ et al.

Human Mutation, 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."