Resources & publications
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2009Journal (source)Nat. Genet.Highly conserved non-coding elements on either side of SOX9 associated with P...
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2019Journal (source)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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2021Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...