Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.N120fs
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LMNA

NM_170707.4:p.N120fs

Associated Papers

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.

Wu XY et al.

Pharmaceuticals (basel, Switzerland), 2024

Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies.

de Uña-Iglesias D et al.

Genes, 2024

38927710 (PubMed )
Supplement: genes-15-00774-s001.zip › genes-3035211-supplementary.pdf

Genetic predisposition study of heart failure and its association with cardiomyopathy.

Kaviarasan V et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2022

Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis.

Widyastuti HP et al.

Bmc Medical Genetics, 2020

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

Zaragoza MV et al.

Plos One, 2016

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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."