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Dershem, Ridge, Gorvin, Caroline M, Metpally, Raghu PR, Krishnamurthy, Sarathbabu, Smelser, Diane T, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Carey, David J, Thakker, Rajesh V and Breitwieser, Gerda E
(2020)
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
AMERICAN JOURNAL OF HUMAN GENETICS, 106 (6).
pp. 734-747.
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 (AP2 sigma) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
HUMAN MOLECULAR GENETICS, 27 (5).
pp. 901-911.