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A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

Luigia Cinque; Lucia Micale; Elena Manara; Andrea Esposito; Orazio Palumbo; Andrea Maria Chiariello; Simona Bianco; Giulia Guerri; Matteo Bertelli; Maria Grazia Giuffrida; Laura Bernardini; Angelantonio Notarangelo; Mario Nicodemi; Marco Castori
Human Genetics · Vol. 141, Issue 2 · pp. 217-227 · 2022
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2022-02-01
Publication Year2022
Volume141
Issue2
Pages217-227
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-021-02403-y

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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