Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S1876*
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PKD1

NM_001009944.3:p.S1876*

Associated Papers

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease.

Durkie M et al.

Human Mutation, 2023

Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease.

Janssens P et al.

Kidney International Reports, 2021

Novel PKD1 mutations - the effect on clinical phenotype of ADPKD patients in Lower Silesia.

Augustyniak-Bartosik H et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2013

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