Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Paciorkowski, Alex R.; Weisenberg, Judy; Kelley, Joshua B.; Spencer, A. Benjamin; Tuttle, Emily; Ghoneim, Dalia; Thio, Liu Lin; Christian, Susan L.; Dobyns, William B.; Paschal, Bryce M.

doi:10.17615/gxsn-e253

2014

DOI: 10.17615/gxsn-e253

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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Alex R. Paciorkowski¹,

Judy Weisenberg²,

Joshua B. Kelley³

et al.

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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

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