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Paper Report for: Williams_2015_Clin.Genet_88_597

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Title: Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy
Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S
Ref: Clin Genet, 88:597, 2015 : PubMed

        



Related information

Mutation | Y524X_human-PGAP1, Q466X_human-PGAP1,



Citations formats

Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S (2015)
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy
Clin Genet 88: 597-9

Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S (2015)
Clin Genet 88: 597-9



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