Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K270K
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LMNA

NM_170707.4:p.K270K

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

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

New insights into the roles of NADPH oxidases in sexual development and ascospore germination in Sordaria macrospora.

Dirschnabel DE et al.

Genetics, 2014

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

Scharner J et al.

Human Mutation, 2011

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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."