Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.N1380K
Back to variants list

LAMB2

NM_002292.4:p.N1380K

Associated Papers

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

The clinical characteristics and genotype analysis of LAMB2 gene mutation.

Li G et al.

Frontiers in Medicine, 2024

Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.

Chen YM et al.

Journal of the American Society of Nephrology : Jasn, 2013

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

Matejas V et al.

Human Mutation, 2010

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Hasselbacher K et al.

Kidney International, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."