Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2186P
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PKD1

NM_001009944.3:p.R2186P

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

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.

Mallawaarachchi AC et al.

European Journal of Human Genetics : Ejhg, 2021

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