Associated Papers
Biomimetic Digital Twins and Multiomics: Applications to Rheumatoid Arthritis and the Potential Reclassification of Variants of Unknown Clinical Significance.
Kearns WG et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table5.xlsx › nsPOI
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2
TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.
Singh KK et al.
Journal of Negative Results in Biomedicine, 2012
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