Varaico: Literature-Extracted Genetic Variants

Gene:CUBN
Variant:p.G3027R
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CUBN

NM_001081.4:p.G3027R

Associated Papers

To treat or not to treat: CUBN-associated persistent proteinuria.

Choi YY et al.

Kidney Research and Clinical Practice, 2024

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.

Kingma SDK et al.

Orphanet Journal of Rare Diseases, 2023

37710296 (PubMed )
Supplement: 13023_2023_2889_MOESM2_ESM.xlsx › Tabel_artikel

Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.

Domingo-Gallego A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Bedin M et al.

The Journal of Clinical Investigation, 2020

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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."