Varaico: Literature-Extracted Genetic Variants

Gene:PKD2L1
Variant:p.C223S
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PKD2L1

NM_016112.3:p.C223S

Associated Papers

Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.

Vien TN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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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."