Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.M1T
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PRPH

NM_006262.4:p.M1T

Associated Papers

Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Iannaccone A

Documenta Ophthalmologica. Advances in Ophthalmology, 2001

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.

Felbor U et al.

Human Mutation, 1997

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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."