Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.L209_V210Splc
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ZMPSTE24

NM_005857.5:p.L209_V210Splc

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.

Ahmad Z et al.

Clinical 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."