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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RDH12

Variant:p.G220S

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RDH12

NM_152443.3:p.G220S

hg38:chr14:67727190 G>A

Associated Papers

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

Sharon D et al.

Molecular Vision, 2015

26261414 (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."