Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.C324R
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LAMB2

NM_002292.4:p.C324R

Associated Papers

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2c._Multiple_occurences

LAMB2 gene: broad clinical spectrum in Pierson syndrome.

Leventoğlu E et al.

Cen Case Reports, 2024

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

Case of Pierson syndrome presented with hyphema,vitrous haemorrhage and subsequent neovascular glaucoma.

ALKhamees A et al.

Bmc Ophthalmology, 2023

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

Kikkawa Y et al.

Jci Insight, 2021

A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.

Falix FA et al.

European Journal of Pediatrics, 2017

A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion.

Chen YM et al.

Journal of the American Society of Nephrology : Jasn, 2011

[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].

Zurowska A et al.

Przeglad Lekarski, 2006

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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."