P4HB recurrent missense mutation causing...

Journal of Medical Genetics 2017 / 12

P4HB recurrent missense mutation causing Cole-Carpenter syndrome

Balasubramanian, Meena, Padidela, Raja, Pollitt, Rebecca C, Bishop, Nicholas J, Mughal, M Zulf, Offiah, Amaka C, Wagner, Bart E, McCaughey, Janine, Stephens, David J
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Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2017-104899
Date:
December, 2017
File:
PDF, 1.35 MB
english, 2017
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