Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.K677fs
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PDE6A

NM_000440.3:p.K677fs

Associated Papers

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

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Khan SY et al.

Molecular Vision, 2015

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.

Nair P et al.

Oman Journal of Ophthalmology, 0

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