Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L4019*
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PKD1

NM_001009944.3:p.L4019*

Associated Papers

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

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Stekrova J et al.

Bmc Medical Genetics, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."