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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.S983F

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FBN1

NM_000138.5:p.S983F

hg38:chr15:48489985 G>A

Associated Papers

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Chesneau B et al.

European Journal of Human Genetics : Ejhg, 2021

33414558 (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."