Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K270_L271Splc
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LMNA

NM_170707.4:p.K270_L271Splc

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

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

Akinci B et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 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."