Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.C109Y
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ZMPSTE24

NM_005857.5:p.C109Y

Associated Papers

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

Ahmad Z et al.

Clinical Genetics, 2012

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.

Gaudy-Marqueste C et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."