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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

BMC medical genomics, 2024-05, Vol.17 (1), p.142-142 [Peer Reviewed Journal]

2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-024-01904-9 ;PMID: 38790056

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