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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMNA

Variant:p.L165_R166del1

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LMNA

NM_170707.4:p.L165_R166del1

hg38:chr1:156130752 TCTG>T

Associated Papers

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.

Shchagina O et al.

International Journal of Molecular Sciences, 2025

39940784 (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."