Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.M1_G2delFs
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ZMPSTE24

NM_005857.5:p.M1_G2delFs

Associated Papers

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Lessel D et al.

Human Genetics, 2018

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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."