Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.I351_S352del1
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ZMPSTE24

NM_005857.5:p.I351_S352del1

Associated Papers

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

Schaflinger E et al.

Gene, 2022

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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."