Varaico: Literature-Extracted Genetic Variants

Gene:CUBN
Variant:p.Y3018S
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CUBN

NM_001081.4:p.Y3018S

Associated Papers

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Sakakibara N et al.

Kidney International Reports, 2026

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.

Mitrotti A et al.

International Journal of Molecular Sciences, 2024

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

Kingma SDK et al.

Orphanet Journal of Rare Diseases, 2023

Clinical and genetic characterization of children with cubilin variants.

Cicek N et al.

Pediatric Nephrology (berlin, Germany), 2023

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

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

Bedin M et al.

The Journal of Clinical Investigation, 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584

Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature.

Ran J et al.

Case Reports in Nephrology and Dialysis, 0

Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.

Ayoub EAM et al.

Jornal Brasileiro De Nefrologia, 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."