Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a neurodevelopmental brain malformation syndrome

Publisher： John Wiley & Sons Inc

E-ISSN： 1399-0004|93|2|387-391

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.93, Iss.2, 2018-02, pp. : 387-391

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