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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKHD1

Variant:p.G34insFs

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PKHD1

NM_138694.4:p.G34insFs

hg38:chr6:52083208 C>CT

Associated Papers

Kidney organoids demonstrate that PTH1R drives a cystogenic cAMP-pPKA-pCREB axis in developmental polycystic kidney disease.

Afrin H et al.

American Journal of Physiology. Renal Physiology, 2025

40602764 (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."