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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPH2

Variant:p.Y236delFs

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PRPH2

NM_000322.5:p.Y236delFs

hg38:chr6:42704484 CG>C

Associated Papers

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Zernant J et al.

Plos Genetics, 2022

35353811 (PubMed )

Supplement: pgen.1010129.s001.xlsx › Sheet1

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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."