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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.C1044G

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FBN1

NM_000138.5:p.C1044G

hg38:chr15:48488446 A>C

Associated Papers

Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.

Somers AE et al.

American Journal of Medical Genetics. Part A, 2016

27112580 (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."