Open AccessAutosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation
Author(s) -
Alex R. Paciorkowski,
Judy Weisenberg,
Joshua B. Kelley,
Adam Spencer,
Emily Tuttle,
Dalia Ghoneim,
Liu Lin Thio,
Susan L. Christian,
William B. Dobyns,
Bryce M. Paschal
Publication year - 2014
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/gxsn-e253
Subject(s) - medicine , cerebellum , mutation , anatomy , neuroscience , genetics , biology , gene
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