Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.K17fs
Back to variants list

ZMPSTE24

NM_005857.5:p.K17fs

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."