Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.S179F
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LAMB2

NM_002292.4:p.S179F

Associated Papers

The clinical characteristics and genotype analysis of LAMB2 gene mutation.

Li G et al.

Frontiers in Medicine, 2024

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

Suzuki R et al.

Kidney International Reports, 2023

37705905 (PubMed )
Supplement: mmc1.pdf

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

Kikkawa Y et al.

Jci Insight, 2021

33749661 (PubMed )
Supplement: jciinsight-6-145908-s063.pdf

Laminin Polymerization and Inherited Disease: Lessons From Genetics.

Shaw L et al.

Frontiers in Genetics, 2021

Chimeric protein identification of dystrophic, Pierson and other laminin polymerization residues.

McKee KK et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2018

Crystal structures of the network-forming short-arm tips of the laminin β1 and γ1 chains.

Carafoli F et al.

Plos One, 2012

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.

Mbarek IB et al.

Pediatric Nephrology (berlin, Germany), 2011

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Matejas V et al.

Human Mutation, 2010

Variable phenotype of Pierson syndrome.

Choi HJ et al.

Pediatric Nephrology (berlin, Germany), 2008

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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."