Associated Papers
Atypical type A aortic dissection caused by Loeys-Dietz syndrome with a novel mutation in TGFBR2: Report of a rare case.
Wang Z et al.
Asian Journal of Surgery, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TGFBR2
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.
Almpani K et al.
Journal of Medical Genetics, 2022
34916229 (PubMed )
Supplement: jmedgenet-2021-107695supp001.pdf
Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.
Ryland GL et al.
Genome Medicine, 2015
26257827 (PubMed )
Supplement: 13073_2015_210_MOESM1_ESM.xlsx › Table_S3
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