Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L59V
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LMNA

NM_170707.4:p.L59V

Associated Papers

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

Besci O et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy.

Xiao C et al.

Advanced Biology, 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

Genomic instability and DNA replication defects in progeroid syndromes.

Burla R et al.

Nucleus (austin, Tex.), 2018

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

Hussain I et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.

Guo X et al.

The Canadian Journal of Cardiology, 2016

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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."