Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R190P
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LMNA

NM_170707.4:p.R190P

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

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

Sivitskaya LN et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2017

LMNA-related dilated cardiomyopathy.

Vaikhanskaya T et al.

Oxford Medical Case Reports, 2014

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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."