Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D136V
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LMNA

NM_170707.4:p.D136V

Associated Papers

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.

Wang J et al.

Pediatric Research, 2024

Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.

Bennett JS et al.

Heart Rhythm, 2022

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.

Mosbah H et al.

Cells, 2020

How to diagnose a lipodystrophy syndrome.

Vantyghem MC et al.

Annales D'endocrinologie, 2012

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

Phenomics and lamins: from disease to therapy.

Hegele RA et al.

Experimental Cell Research, 2007

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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."