Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.G308S
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PDE6B

NM_000283.4:p.G308S

Associated Papers

Novel mutations in PDE6B causing human retinitis pigmentosa.

Cheng LL et al.

International Journal of Ophthalmology, 2016

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.

Jin ZB et al.

Journal of Medical Genetics, 2008

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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."