Varaico: Literature-Extracted Genetic Variants

Gene:ACTN4
Variant:p.R310W
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ACTN4

NM_004924.6:p.R310W

Associated Papers

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease.

He Z et al.

Frontiers in Pediatrics, 2022

Diagnostic utility of genetic testing in patients undergoing renal biopsy.

Benson KA et al.

Cold Spring Harbor Molecular Case Studies, 2020

Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia.

Hadchouel A et al.

European Journal of Pediatrics, 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."