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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.N2144fs

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FBN1

NM_000138.5:p.N2144fs

hg38:chr15:48437027 ATT>N

Associated Papers

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.

Gezdirici A et al.

Journal of Human Genetics, 2021

33483584 (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."