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Now Reading: Pathogenic variants in the polycystin pore helix cause distinct forms of channel dysfunction

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Pathogenic variants in the polycystin pore helix cause distinct forms of channel dysfunction

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Pathogenic variants in the polycystin pore helix cause distinct forms of channel dysfunction

kisded kisdedUncategorized13 hours ago3 Views

Proceedings of the National Academy of Sciences, Volume 122, Issue 24, June 2025.
SignificanceADPKD is a common monogenetic disorder—impacting millions of individuals worldwide. The disease is initiated by variants in renal polycystins (PKD1 and PKD2), which function as ion channel subunits in the primary cilia. Yet…
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