p4hb

P4HB recurrent missense mutation causing Cole-Carpenter syndrome
Meena Balasubramanian, Raja Padidela, Rebecca C Pollitt, Nicholas J Bishop, M Zulf Mughal, Amaka C Offiah, Bart E Wagner, Janine McCaughey, David J Stephens

Journal of Medical Genetics Mar 2018, 55 (3) 158-165; DOI: 10.1136/jmedgenet-2017-104899

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