Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.N39K
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LMNA

NM_170707.4:p.N39K

Associated Papers

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

Martínez Olorón P et al.

International Journal of Molecular Sciences, 2024

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.

Cesar S et al.

Frontiers in Cell and Developmental Biology, 2023

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Cesar S et al.

Frontiers in Genetics, 2023

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

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Fan Y et al.

Journal of Medical Genetics, 2021

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Gonzalez-Quereda L et al.

Genes, 2020

32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf

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

Ishiyama A et al.

Human Genome Variation, 2018

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

Tan D et al.

Plos One, 2015

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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."