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Table 3 RefSeq protein-coding genes in a 0.66-Mb deleted region at 6p25.3 in the present patient

From: Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

Gene symbol

OMIM ID

Associated diseases

Inheritance

IRF4

601,900

[Skin/hair/eye pigmentation, variation in, 8]

EXOC2

615,329

Neurodevelopmental disorder with dysmorphicfacies and cerebellar hypoplasia

AR