Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.R3078*
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LAMA5

NM_005560.6:p.R3078*

Associated Papers

Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene.

Deepthi B et al.

Pediatric Nephrology (berlin, Germany), 2024

Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome.

Sunwoo Y et al.

Frontiers in Pediatrics, 2022

Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.

Taniguchi Y et al.

Kidney360, 2021

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."