Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D243fs
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LMNA

NM_170707.4:p.D243fs

Associated Papers

Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy.

Zhuo W et al.

International Journal of Cardiology, 2025

Cardiomyopathy: pathogenesis and therapeutic interventions.

Huang S et al.

Medcomm, 2024

Preclinical Advances of Therapies for Laminopathies.

Benarroch L et al.

Journal of Clinical Medicine, 2021

Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies.

Gerbino A et al.

Frontiers in Physiology, 2018

Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects.

Gerbino A et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017

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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."