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CKAP2L mutation confirms the diagnosis of Filippi syndrome
Author(s) -
Capecchi G.,
Baldassarri M.,
Ferranti S.,
Guidoni E.,
Cioni M.,
Nürnberg P.,
Mencarelli M.A.,
Renieri A.,
Grosso S.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13188
Subject(s) - mutation , genetics , biology , gene