Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q312_L313Splc
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LMNA

NM_170707.4:p.Q312_L313Splc

Associated Papers

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

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

Hoorntje ET et al.

Circulation. Cardiovascular Genetics, 2017

28790152 (PubMed )
Supplement: circgenetics_circcvg-2016-001631_supp1.pdf

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

van Spaendonck-Zwarts KY et al.

European Journal of Heart Failure, 2013

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 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."