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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPH2

Variant:p.P219Q

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PRPH2

NM_000322.5:p.P219Q

hg38:chr6:42704537 G>T

Associated Papers

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

Felbor U et al.

Human Mutation, 1997

9338584 (PubMed )

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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."