Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1799*
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PKD1

NM_001009944.3:p.Q1799*

Associated Papers

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.

Kimura T et al.

Biomolecules, 2023

37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

Tan AY et al.

Journal of the American Society of Nephrology : Jasn, 2018

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s4.xlsx › Sheet1

Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease.

Zhang W et al.

Cancer Genetics, 0

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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."