Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.V238delFs
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PDE6B

NM_000283.4:p.V238delFs

Associated Papers

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Kim YJ et al.

Genes, 2021

33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.

Kim YN et al.

Journal of Ophthalmology, 2021

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.

Kim YN et al.

Scientific Reports, 2020

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