Varaico: Literature-Extracted Genetic Variants

Gene:CUBN
Variant:p.F253S
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CUBN

NM_001081.4:p.F253S

Associated Papers

Identification of a genetic risk factor for metformin-induced vitamin B12 deficiency.

Baldwin FD et al.

Diabetologia, 2026

Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea.

Anatolou D et al.

Sleep & Breathing = Schlaf & Atmung, 2024

Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part II. Insights from two MS cases.

van Rensburg SJ et al.

Metabolic Brain Disease, 2021

Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.

Alharazy S et al.

Frontiers in Genetics, 2021

Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.

Janicki PK et al.

Molecular Medicine Reports, 2019

30816480 (PubMed )
Supplement: supplement_2.pdf

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.

Pytel V et al.

Brain and Behavior, 2019

Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.

Deng C et al.

Scientific Reports, 2019

30911047 (PubMed )
Supplement: 41598_2019_41641_MOESM1_ESM.pdf

New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.

Song CC et al.

Chinese Medical Journal, 2018

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.

Grarup N et al.

Plos Genetics, 2013

No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.

Martinelli M et al.

International Journal of Immunopathology and Pharmacology, 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."