Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q656_S657Splc
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LMNA

NM_170707.4:p.Q656_S657Splc

Associated Papers

Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.

Zhou X et al.

Biogerontology, 2025

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

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.

Pande S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023

Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.

Wang J et al.

Frontiers in Pediatrics, 2022

Mutations Involved in Premature-Ageing Syndromes.

Coppedè F

The Application of Clinical Genetics, 2021

Pharmacotherapy to gene editing: potential therapeutic approaches for Hutchinson-Gilford progeria syndrome.

Saxena S et al.

Geroscience, 2020

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.

Bar DZ et al.

Journal of Medical Genetics, 2017

Hutchinson-Gilford progeria syndrome.

Ullrich NJ et al.

Handbook of Clinical Neurology, 2015

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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."