Varaico: Literature-Extracted Genetic Variants

Gene:ITGA3
Variant:p.T513Splc
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ITGA3

NM_002204.4:p.T513Splc

Associated Papers

Successful kidney transplantation in a patient with neonatal-onset ILNEB.

Okamoto T et al.

Pediatric Transplantation, 2021

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Colombo EA et al.

Orphanet Journal of Rare Diseases, 2016

Recently Identified Forms of Epidermolysis Bullosa.

McGrath JA

Annals of Dermatology, 2015

Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.

Yalcin EG et al.

Human Molecular Genetics, 2015

A human integrin-α3 mutation confers major renal developmental defects.

Shukrun R et al.

Plos One, 2014

Integrin α3 mutations with kidney, lung, and skin disease.

Has C et al.

The New England Journal of Medicine, 2012

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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."