Published in
Wiley, The American Journal of Medical Genetics - Part A, 3(176), p. 722-726, 2017
DOI: 10.1002/ajmg.a.38589
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UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism
Journal article published in 2017 by
Teresa Giugliano,
Claudia Santoro 
,
Annalaura Torella ,
Francesca Del Vecchio Blanco,
Pia Bernardo,
Vincenzo Nigro,
Giulio Piluso
,
Annalaura Torella ,
Francesca Del Vecchio Blanco,
Pia Bernardo,
Vincenzo Nigro,
Giulio Piluso
This paper is made freely available by the publisher.
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