Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.R238*
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PDE6C

NM_006204.4:p.R238*

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

Clinical and Genetic Features of Korean Patients with Achromatopsia.

Choi YJ et al.

Genes, 2023

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."