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bibliographicCitation Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD. 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. Hum Mutat. 2015 Oct;36(10):1009–14. PMID: 26173930; PMCID: PMC4589226.
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title 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 inHNRNPK
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