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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT122

Variant:p.R1059H

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IFT122

NM_052989.3:p.R1059H

hg38:chr3:129515510 G>A

Associated Papers

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

Kaukonen M et al.

Human Genetics, 2021

33606121 (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."