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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TNFRSF11A

Variant:p.T149_V150delFs

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TNFRSF11A

NM_003839.4:p.T149_V150delFs

hg38:chr18:62358266 CAG>C

Associated Papers

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4.

DeBose-Scarlett E et al.

Journal of Medical Genetics, 2025

39939156 (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."