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publicationName Molecular Genetics & Genomic Medicine
startingPage e1542
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bibliographicCitation Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC; Undiagnosed Diseases Network, Wangler MF. Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Mol Genet Genomic Med. 2021 Jan;9(1):e1542. PMID: 33350591; PMCID: PMC7963417.
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date 2020-12-22^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://doi.org/10.1002/mgg3.1542
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language English
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title Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
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