Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.G3685R
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LAMA5

NM_005560.6:p.G3685R

Associated Papers

A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects.

Kaimori JY et al.

Jci Insight, 2022

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

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

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Gast C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016

Integrative genomic and transcriptomic characterization of papillary carcinomas of the breast.

Piscuoglio S et al.

Molecular Oncology, 2014

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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."