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

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). 901 - 911.

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