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Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing
Author(s) -
Li Chumei,
Wang Yongdong,
Szybowska Marta
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38201
Subject(s) - exome sequencing , center (category theory) , library science , citation , genetics , medicine , mutation , gene , biology , computer science , chemistry , crystallography
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