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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.P1148insFs

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FBN1

NM_000138.5:p.P1148insFs

hg38:chr15:48487330 T>TG

Associated Papers

The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.

Xia Y et al.

F&s Reports, 2024

38524212 (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."