Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.D141insFs
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PRPH

NM_006262.4:p.D141insFs

Associated Papers

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.

Pajic B et al.

Retina (philadelphia, Pa.), 2006

Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.

Weigell-Weber M et al.

Molecular Vision, 1996

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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."