Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.R1148H
Back to variants list

LAMB2

NM_002292.4:p.R1148H

Associated Papers

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

Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.

Thakor JM et al.

Molecular Biology Reports, 2021

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

Kikkawa Y et al.

Jci Insight, 2021

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH et al.

Journal of Human Genetics, 2013

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."