Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R99delFs
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LMNA

NM_170707.4:p.R99delFs

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

Laminopathies: multisystem dystrophy syndromes.

Jacob KN et al.

Molecular Genetics and Metabolism, 2006

Altered splicing in prelamin A-associated premature aging phenotypes.

De Sandre-Giovannoli A et al.

Progress in Molecular and Subcellular Biology, 2006

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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."