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Official Journal of the Human Genome Organisation

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TableĀ 2 List of the seven potentially deleterious mutations

From: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Patient ID Mutation Gene Amino acid change
MPI-2 chrX 134907970T->C SLC9A6 p.L188P
MPI-3 chrX 31132095-31132097delAAG DMD p.L1897del
MPI-8 chrX 73660933G->A SLC16A2 p.R271H
MPI-10 chrX 70256689A->G MED12 p.Y166C
MPI-11 chrX 21920673A->G SMS p.Y328C
MPI-16 chrX 153323964-153323965delAG GDI1 p.396frameshift
MPI-22 chrX 153240569T->C FLNA p.Q1484R