Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.K585N
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PDE6C

NM_006204.4:p.K585N

Associated Papers

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2020

Modification of the PROM1 disease phenotype by a mutation in ABCA4.

Lee W et al.

Ophthalmic Genetics, 2019

Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.

Langlo CS et al.

Investigative Ophthalmology & Visual Science, 2016

27479814 (PubMed )
Supplement: i1552-5783-57-10-3984-s04.pdf

Oligocone trichromacy: clinical and molecular genetic investigations.

Andersen MK et al.

Investigative Ophthalmology & Visual Science, 2010

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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."