Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S94_A96del3
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LMNA

NM_170707.4:p.S94_A96del3

Associated Papers

LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.

Wang Z et al.

Journal of Advanced Research, 2025

Sudden cardiac death prevention in an Emery-Dreifuss muscular dystrophy patient.

Yamazawa H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

van Tienen FHJ et al.

European Journal of Human Genetics : Ejhg, 2019

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.

Ziat E et al.

Journal of Neuromuscular Diseases, 2016

27911330 (PubMed )
Supplement: sj-pdf-1-jnd-10.3233_jnd-160169.pdf
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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."