Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.L274P
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LAMB2

NM_002292.4:p.L274P

Associated Papers

In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.

Ichikawa Y et al.

Pediatric Nephrology (berlin, Germany), 2024

39093455 (PubMed )
Supplement: 467_2024_6468_MOESM5_ESM.xlsx › Sheet1

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.

Suzuki R et al.

Kidney International Reports, 2023

Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.

Kikkawa Y et al.

Jci Insight, 2021

Molecular mechanisms determining severity in patients with Pierson syndrome.

Minamikawa S et al.

Journal of Human Genetics, 2020

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Nagano C et al.

Scientific Reports, 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."