Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S303fs
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LMNA

NM_170707.4:p.S303fs

Associated Papers

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

Nishiuchi S et al.

Circulation. Cardiovascular Genetics, 2017

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Klauke B et al.

Plos One, 2017

29253866 (PubMed )
Supplement: pone.0189489.s006.docx

Gene expression, chromosome position and lamin A/C mutations.

Puckelwartz MJ et al.

Nucleus (austin, Tex.), 0

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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."