Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
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Mol Genet Genomic Med. 2019 Feb;7(2):e00507. doi: 10.1002/mgg3.507. Epub 2019 Jan 4.
Mol Genet Genomic Med. 2019.
PMID: 30614210
Free PMC article.