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A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia: ALHARBY et al
Journal article   Peer reviewed

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia: ALHARBY et al

E. Alharby, A.M. Albalawi, A. Nasir, S.A. Alhijji, A. Mahmood, K. Ramzan, F. Abdusamad, A. Aljohani, O. Abdelsalam, A. Eldardear, …
Clinical genetics, Vol.92(6), pp.579-586
12/2017

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