Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.L671P
Back to variants list

PDE6A

NM_000440.3:p.L671P

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

[Cause of retinitis pigmentosa and new therapeutics under development].

Sakamoto K et al.

Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."