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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFB2

Variant:p.Y341delFs

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TGFB2

NM_003238.6:p.Y341delFs

hg38:chr1:218437432 AC>A

Associated Papers

Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.

Yagi H et al.

American Journal of Medical Genetics. Part A, 2022

35543214 (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."