Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.M1_M3delFs
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ZMPSTE24

NM_005857.5:p.M1_M3delFs

Associated Papers

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

Denecke J et al.

Human Mutation, 2006

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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."