Varaico: Literature-Extracted Genetic Variants

Gene:LMOD2
Variant:p.K91_V92Splc
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LMOD2

NM_207163.3:p.K91_V92Splc

Associated Papers

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.

Pappas CT et al.

Plos Genetics, 2024

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.

Sono R et al.

Cells, 2023

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.

Yuen M et al.

European Journal of Human Genetics : Ejhg, 2022

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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."