Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K486E
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LMNA

NM_170707.4:p.K486E

Associated Papers

Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.

Hwang M et al.

International Journal of Molecular Sciences, 2026

Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report.

Li Y et al.

Bmc Pediatrics, 2025

Assessment of aortomesenteric distance and mesenteric and retroperitoneal adipose tissue thickness in genetic forms of lipodystrophy.

Unal MC et al.

Journal of Endocrinological Investigation, 2025

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

Rajan R et al.

Scientific Reports, 2024

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

UNUSUAL PRESENTATIONS OF LMNA-ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES.

de Andrade NXS et al.

Aace Clinical Case Reports, 0

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