Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P2940L
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PKD1

NM_001009944.3:p.P2940L

Associated Papers

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

García Rabaneda C et al.

Journal of Clinical Medicine, 2024

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Topak A

Laboratory Medicine, 2024

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Kataoka H et al.

Journal of Clinical Medicine, 2020

31948117 (PubMed )
Supplement: jcm-09-00146-s001.pdf
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