Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R1995C
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PKD1

NM_001009944.3:p.R1995C

Associated Papers

Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease.

Kim H et al.

Laboratory Medicine, 2021

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Mallawaarachchi AC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092
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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."