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The HUGO Journal

Official Journal of the Human Genome Organisation

Table 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

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