Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R582S
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LMNA

NM_170707.4:p.R582S

Associated Papers

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.

Anum et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety.

Vasandani C et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants.

Patni N et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety.

Ji H et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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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."