Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.R747W
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LAMA5

NM_005560.6:p.R747W

Associated Papers

Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis.

Kanwal A et al.

International Journal of Molecular Sciences, 2025

40430072 (PubMed )
Supplement: ijms-26-04925-s001.zip › ijms-3618587-supplementary.pdf

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

Jayadev R et al.

Science Advances, 2022

35584218 (PubMed )
Supplement: sciadv.abn2265_sm.pdf

A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background.

Falcone S et al.

Kidney International, 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

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.

Braun DA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2019

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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."