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Gorvin, Caroline M, Stokes, Victoria J, Boon, Hannah, Cranston, Treena, Gluck, Anna K, Bahl, Shailini, Homfray, Tessa, Aung, Theingi, Shine, Brian, Lines, Kate E et al (show 2 more authors)
(2020)
Activating Mutations of the G-protein Subunit a 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105 (3).
pp. 952-963.
Stokes, Victoria J, Nielsen, Morten F, Hannan, Fadil M 
ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2017)
Hypercalcemic Disorders in Children.
JOURNAL OF BONE AND MINERAL RESEARCH, 32 (11).
pp. 2157-2170.
Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E and Thakker, Rajesh V
(2018)
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
HUMAN MOLECULAR GENETICS, 27 (5).
pp. 901-911.