Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R4010C
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PKD1

NM_001009944.3:p.R4010C

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Yilmaz K et al.

Frontiers in Pediatrics, 2024

38464892 (PubMed )
Supplement: Table1.xlsx › Sayfa1

Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.

Halawi AA et al.

Kidney International Reports, 2023

37441483 (PubMed )
Supplement: mmc1.pdf
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