Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.N39H
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LMNA

NM_170707.4:p.N39H

Associated Papers

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Baskar D et al.

Journal of Neuromuscular Diseases, 2024

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

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Ishiyama A et al.

Human Genome Variation, 2018

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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."