Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.E640_T641Splc
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PDE6B

NM_000283.4:p.E640_T641Splc

Associated Papers

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Lopez-de la Rosa A et al.

Orphanet Journal of Rare Diseases, 2024

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."