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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPECC1

Variant:p.S273insFs

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SPECC1

NM_001243439.2:p.S273insFs

hg38:chr17:20204865 C>CA

Associated Papers

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Gueneau L et al.

American Journal of Human Genetics, 2009

19716112 (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."