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

An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review.

Xu D et al.

Heliyon, 2023

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

Wang J et al.

Frontiers in Pediatrics, 2022

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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."