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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFB1

Variant:p.L11_L16ins2

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TGFB1

NM_000660.7:p.L11_L16ins2

hg38:chr19:41352996 A>ACAGCAGCGGTAGCAGCAG

Associated Papers

Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate.

Hassan N et al.

Rheumatology (oxford, England), 2025

40811023 (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."