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Retinal detachment in Type IX collagen recessive Stickler syndrome.
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Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.
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Frontiers in Molecular Neuroscience, 2022
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Supplement: Table_7.xlsx › Rare_de_novo_LoF
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
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Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
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