Varaico: Literature-Extracted Genetic Variants

Gene:LMOD2
Variant:p.R513*
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LMOD2

NM_207163.3:p.R513*

Associated Papers

Interaction of cardiac leiomodin with the native cardiac thin filament.

Little M et al.

Plos Biology, 2025

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

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

LMOD2-related dilated cardiomyopathy presenting in late infancy.

Lay E et al.

American Journal of Medical Genetics. Part A, 2022

Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy.

Greenway SC et al.

Cjc Open, 2021

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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."