Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.R286L
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LAMA5

NM_005560.6:p.R286L

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

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.

Jayadev R et al.

Science Advances, 2022

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

Pathogenic LAMA5 Variants and Kidney Disease.

Savige J et al.

Kidney360, 2021

Laminin Polymerization and Inherited Disease: Lessons From Genetics.

Shaw L et al.

Frontiers in Genetics, 2021

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient__BRCA1_mutant

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.

Jones LK et al.

Development (cambridge, England), 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."