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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63457
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- Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
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- Article