Novel biallelic variants expand the phenotype of NAA20-related syndrome.
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DOI: 10.1111/cge.14359
Abstract: NAA20 is the catalytic subunit of the NatB complex, which is responsible for N-terminal acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic variants in NAA20 were associated with a novel neurodevelopmental disorder… read more here.
Keywords: novel biallelic; phenotype naa20; naa20 related; biallelic variants ... See more keywords