Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.G568R
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PDE6A

NM_000440.3:p.G568R

Associated Papers

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

De Geer K et al.

Acta Ophthalmologica, 2025

39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data

Transposable element insertions in 1000 Swedish individuals.

Bilgrav Saether K et al.

Plos One, 2023

37506127 (PubMed )
Supplement: pone.0289346.s002.xlsx › Table_8
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