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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FGD1

Variant:p.I215_E216insFs

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FGD1

NM_004463.3:p.I215_E216insFs

hg38:chrX:54470597 A>AC

Associated Papers

Aortic root aneurysm in a patient with Aarskog-Scott syndrome.

Martin-Suarez S et al.

Journal of Cardiac Surgery, 2022

35703394 (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."