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Table 2.

Clinical characteristics of 3 DOCK patients

Patient ID Age at sample collection, y Clinical score Protein expression Exon location Auto antibody
P1 17 75 Absent 19-48 exon het del, None
c.5842 delG,c.5843C>A
p.A1948fsX1953
P2 17 62 Absent Exon 11 hom del. Exon 12-33 het del None
P3 9 45 Absent c.1278-1279 delTG p.V427fsX435 None