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We discuss a fourth identified patient with genomic mutations in the EXOSC2 gene, which code for a cap protein in the RNA exosome in this case report. Intron 8. 801+1G > A in intron 8; a heterozygous maternal variant, missense mutation NM_014285. 7: A in exon 6 and a heterozygous paternal variant; missense mutation NM_014285. 6: A in exon 6 has been identified as a heterozygous maternal variant, missense mutation NM_014285. 6: c427G > A, and a heterozygous paternal variant, A in ma.
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