Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.R369*
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ZMPSTE24

NM_005857.5:p.R369*

Associated Papers

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Wu PF et al.

Molecular Medicine Reports, 2017

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

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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."