Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.L245_W246insFs
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PRPH2

NM_000322.5:p.L245_W246insFs

Associated Papers

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Fernández-Caballero L et al.

International Journal of Molecular Sciences, 2024

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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."