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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFBR1

Variant:p.A230D

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TGFBR1

NM_004612.4:p.A230D

hg38:chr9:99137973 C>A

Associated Papers

Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys-Dietz Syndrome.

Hodges MB et al.

Prenatal Diagnosis, 2025

40325597 (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."