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A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
Author(s) -
Moosa Shahida,
Fano Virginia,
Obregon Maria Gabriela,
Altmüller Janine,
Thiele Holger,
Nürnberg Peter,
Nishimura Gen,
Wollnik Bernd
Publication year - 2016
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.37823
Subject(s) - center of excellence , library science , medical genetics , genetics , political science , biology , computer science , law , gene
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