Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.E119Q
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PRPH

NM_006262.4:p.E119Q

Associated Papers

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Boon CJ et al.

Progress in Retinal and Eye Research, 2009

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.

Allikmets R et al.

Human Genetics, 1999

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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."