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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZMPSTE24

Variant:p.Q39Q

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ZMPSTE24

NM_005857.5:p.Q39Q

hg38:chr1:40258388 G>A

Associated Papers

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

Gaudy-Marqueste C et al.

Genetic Testing and Molecular Biomarkers, 2009

19645629 (PubMed )

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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."