Varaico: Literature-Extracted Genetic Variants

Gene:MYO1E
Variant:p.K118E
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MYO1E

NM_004998.4:p.K118E

Associated Papers

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Deltas C et al.

Genes, 2023

Digenic inheritance and genetic modifiers.

Deltas C

Clinical Genetics, 2018

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Bierzynska A et al.

Kidney International, 2017

Three-dimensional electron microscopy reveals the evolution of glomerular barrier injury.

Randles MJ et al.

Scientific Reports, 2016

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.

Lennon R et al.

Pediatric Nephrology (berlin, Germany), 2015

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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."