Varaico: Literature-Extracted Genetic Variants

Gene:POC1B
Variant:p.P360delFs
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POC1B

NM_172240.3:p.P360delFs

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients

Updating the Genetic Landscape of Inherited Retinal Dystrophies.

García Bohórquez B et al.

Frontiers in Cell and Developmental Biology, 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."