Varaico: Literature-Extracted Genetic Variants

Gene:MYO1E
Variant:p.Y47*
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MYO1E

NM_004998.4:p.Y47*

Associated Papers

Roles of myosin 1e and the actin cytoskeleton in kidney functions and familial kidney disease.

Liu PJ et al.

Cytoskeleton (hoboken, N.j.), 2024

Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.

Krendel M et al.

Pediatric Nephrology (berlin, Germany), 2023

Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.

Guaragna MS et al.

Molecular Genetics and Genomics : Mgg, 2020

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.

Tan W et al.

Pediatric Nephrology (berlin, Germany), 2018

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH et al.

Journal of Human Genetics, 2013

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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."