Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q312Q
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LMNA

NM_170707.4:p.Q312Q

Associated Papers

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 2024

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.

Gao S et al.

American Journal of Medical Genetics. Part A, 2022

Role of Titin Missense Variants in Dilated Cardiomyopathy.

Begay RL et al.

Journal of the American Heart Association, 2015

Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.

Weston TGR et al.

Wires Mechanisms of Disease, 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."