Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.I313fs
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PDE6A

NM_000440.3:p.I313fs

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
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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."