Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.E231*
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ZMPSTE24

NM_005857.5:p.E231*

Associated Papers

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

A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.

Chen M et al.

American Journal of Medical Genetics. Part A, 2009

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.

Moulson CL et al.

The Journal of Investigative Dermatology, 2005

A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.

Kim JY et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."