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De novo variants in <italic>KLF7</italic> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 5, p. 1030, doi. 10.1111/cge.13198
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- Publication type:
- Article
Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 2, p. 221, doi. 10.1111/cge.12956
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- Publication type:
- Article