Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L362insFs
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LMNA

NM_170707.4:p.L362insFs

Associated Papers

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

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL et al.

European Journal of Human Genetics : Ejhg, 2014

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.

De Vos WH et al.

Human Molecular Genetics, 2011

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

Madej-Pilarczyk A et al.

American Journal of Medical Genetics. Part A, 2009

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.

Kosho T et al.

American Journal of Medical Genetics. Part A, 2007

A-type nuclear lamins, progerias and other degenerative disorders.

Smith ED et al.

Mechanisms of Ageing and Development, 2005

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Agarwal AK et al.

Human Molecular Genetics, 2003

[Cutaneous and neurologic vasculitis disclosing EBV-selective immunodeficiency].

Grosieux C et al.

Annales De Dermatologie Et De Venereologie, 1996

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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."