@dpavot:29307790 / 221-247
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The aCGH analysis revealed a pathogenic CNV in the 14q11.2 region, while targeted exome sequencing revealed pathogenic variants in genes associated with intellectual disability (HUWE1, GRIN1), including a gene coding for mandibulofacial dysostosis with microcephaly (EFTUD2).
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projects
| Unselected / annnotation | Selected / annnotation | |
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