Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R541R
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LMNA

NM_170707.4:p.R541R

Associated Papers

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.

Jéru I et al.

Genes, 2021

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.

Cenni V et al.

Ageing Research Reviews, 2018

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

Fukuchi K et al.

Journal of Medical Genetics, 2004

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Cao H et al.

Journal of Human Genetics, 2003

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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."