Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.A287fs
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LMNA

NM_170707.4:p.A287fs

Associated Papers

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

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

Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X.

De Zio R et al.

Frontiers in Cell and Developmental Biology, 2022

Phosphorylation of Lamin A/C at serine 22 modulates Nav 1.5 function.

Olaopa MA et al.

Physiological Reports, 2021

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

Kwapich M et al.

Diabetes & Metabolism, 2019

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
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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."