Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.K17delFs
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ZMPSTE24

NM_005857.5:p.K17delFs

Associated Papers

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.

Scott JB et al.

Pediatric Dermatology, 2021

Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.

Matulevičienė A et al.

Clinical Dysmorphology, 2016

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

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.

Smigiel R et al.

American Journal of Medical Genetics. Part A, 2010

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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."