Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Abstract Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for ‘actionable’ genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), where loss-of-function (LoF) variants cause a rare ne...
Saved in:
Similar Items
-
The impact of caesarean scar niche on fertility - a systematic review
by: M. M van den Tweel, et al.
Published: (2024-12-01) -
Costs in value-based health care dashboards: a qualitative study on stakeholder requirements
by: Esmée K. J. van der Poort, et al.
Published: (2025-08-01) -
Surgical instrument counting: Current practice and staff perspectives on technological support
by: A.M. Kooijmans, et al.
Published: (2024-12-01) -
Manure odor profiling for flock-level monitoring on commercial layer pullet farms: Vaccination events as a model stressor
by: Lara A. van Veen, et al.
Published: (2025-02-01) -
Non-invasive electrophysiological monitoring vs conventional monitoring during labour in a tertiary obstetric care centre in the Netherlands: study protocol of a cohort intervention random sampling study (NIEM-II study)
by: S G Oei, et al.
Published: (2025-07-01)