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PRKDC mutations in a SCID patient with profound neurological abnormalities.

Woodbine L, Neal JA, Sasi NK, Shimada M, Deem K, Coleman H, Dobyns WB, Ogi T, Meek K, Davies EG, Jeggo PA. PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80.

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