Large-scale exome datasets reveal a new class of...

Human Molecular Genetics 2018 / 01

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

Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E, Thakker, Rajesh V
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Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddy010
Date:
January, 2018
File:
PDF, 1.28 MB
english, 2018
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