Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.L278L
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PDE6B

NM_000283.4:p.L278L

Associated Papers

Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.

Lee BJH et al.

Ophthalmic Genetics, 2023

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Yoon CK et al.

Bmc Genomics, 2015

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