Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.W561*
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PDE6A

NM_000440.3:p.W561*

Associated Papers

Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.

Kuehlewein L et al.

Investigative Ophthalmology & Visual Science, 2022

Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.

Dawood M et al.

International Journal of Ophthalmology, 2021

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.

Ullah I et al.

Human Genome Variation, 2016

27917291 (PubMed )
Supplement: hgv201636-s1.pdf

Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

Dryja TP et al.

Investigative Ophthalmology & Visual Science, 1999

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

Huang SH et al.

Nature Genetics, 1995

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.

Nair P et al.

Oman Journal of Ophthalmology, 0

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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."