Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E2*
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LMNA

NM_170707.4:p.E2*

Associated Papers

Calcium handling remodeling in dilated cardiomyopathy: From molecular mechanisms to targeted therapies.

Wang Y et al.

Channels (austin, Tex.), 2025

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Chase CL et al.

Journal of the Endocrine Society, 2025

Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy.

Luo X et al.

Jacc. Basic to Translational Science, 2024

38559624 (PubMed )
Supplement: mmc1.docx

Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.

Lian H et al.

Journal of Translational Medicine, 2023

Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome.

Shilo A et al.

Nucleic Acids Research, 2019

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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."