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In this case, the maternal copy carried a Q79X nonsense mutation and the paternal allele had a mutation that caused a frame shift and insertion of the stop codon after 48 amino acids

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Ahmed M, Guo H, Zhang S, Sehgal L, Jain P, Kanagal-Shamanna R, Ok CY, Leeming A, Yao Y, Zhang L, Nomie K, Wang L, Wang M