Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.Y267*
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PDE6B

NM_000283.4:p.Y267*

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

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results
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