Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.G359_G363del5
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PKD2

NM_000297.4:p.G359_G363del5

Associated Papers

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.

Liu F et al.

The Journal of Biological Chemistry, 2017

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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."