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    Au, P. et al. (n.d.). GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK. Human mutation. 36 (10), pp. 1009-1014. [Online]. 
  
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