Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.V30_L33delFs
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PDE6C

NM_006204.4:p.V30_L33delFs

Associated Papers

A new mutation in the PDE6C gene in achromatopsia.

Jiménez-Siles L et al.

European Journal of Ophthalmology, 2023

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N et al.

Plos One, 2016

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