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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 02; 54(2):84-86.
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PubMed
subject areas
Child
Child, Preschool
Exome
Female
High-Throughput Nucleotide Sequencing
Humans
Intellectual Disability
Male
Muscle Hypotonia
Mutation, Missense
Neurodevelopmental Disorders
Tumor Protein p73
Ubiquitin-Protein Ligases
authors with profiles
CHRISTINE ENG