Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.L362F
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ZMPSTE24

NM_005857.5:p.L362F

Associated Papers

ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.

Spear ED et al.

Disease Models & Mechanisms, 2018

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

The epidemiology of premature aging and associated comorbidities.

Coppedè F

Clinical Interventions in Aging, 2013

Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.

Barrowman J et al.

Human Molecular Genetics, 2012

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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."