Varaico: Literature-Extracted Genetic Variants

Gene:LAMC1
Variant:p.R490W
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LAMC1

NM_002293.4:p.R490W

Associated Papers

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.

Ong Tone S et al.

Progress in Retinal and Eye Research, 2021

Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4.

Wieben ED et al.

Plos One, 2018

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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."