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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFBR1

Variant:p.S236del1

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TGFBR1

NM_004612.4:p.S236del1

hg38:chr9:99137989 CTCT>C

Associated Papers

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Camerota L et al.

Genes, 2019

31569402 (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."