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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMNA

Variant:p.L647F

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LMNA

NM_170707.4:p.L647F

hg38:chr1:156138728 C>T

Associated Papers

Site specificity determinants for prelamin A cleavage by the zinc metalloprotease ZMPSTE24.

Babatz TD et al.

The Journal of Biological Chemistry, 0

33293369 (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."