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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

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1 Published in 2019 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2018.12.008

Abstract: Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe intellectual disability. The de novo variants comprise six missense variants, three… read more here.

Keywords: variants mapk8ip3; novo variants; intellectual disability; brain anomalies ... See more keywords