Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L306V
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LMNA

NM_170707.4:p.L306V

Associated Papers

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

Fernández-Pombo A et al.

Diabetes, Obesity & Metabolism, 2024

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

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 presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.

Akinci B et al.

Metabolism: Clinical and Experimental, 2017

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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."