Varaico: Literature-Extracted Genetic Variants

Gene:POC1B
Variant:p.K48delFs
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POC1B

NM_172240.3:p.K48delFs

Associated Papers

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

Villafuerte-de la Cruz RA et al.

Bmc Ophthalmology, 2024

Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.

Zenteno JC et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

Villanueva-Mendoza C et al.

Genes, 2021

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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."