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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZMPSTE24

Variant:p.L91del1

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ZMPSTE24

NM_005857.5:p.L91del1

hg38:chr1:40267785 GCTT>G

Associated Papers

The structural basis of ZMPSTE24-dependent laminopathies.

Quigley A et al.

Science (new York, N.y.), 2013

23539603 (PubMed )

Supplement: 1231513.quigley.sm.pdf

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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."