Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y1181C
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PKD1

NM_001009944.3:p.Y1181C

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Eisenberger T et al.

Plos One, 2015

25646624 (PubMed )
Supplement: pone.0116680.s016.pdf
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