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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.N1030delFs

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FBN1

NM_000138.5:p.N1030delFs

hg38:chr15:48488486 AT>A

Associated Papers

Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.

Capecchi E et al.

Italian Journal of Pediatrics, 2024

38715046 (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."