Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.Q654*
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PDE6A

NM_000440.3:p.Q654*

Associated Papers

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

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Beryozkin A et al.

Scientific Reports, 2015

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

Sharon D et al.

Molecular Vision, 2015

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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."