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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing
Published 2025-01-01“…According to the guidelines of the American Society for Medical Genetics and Genomics (ACMG), the 22q13.33 microdeletion was classified as pathogenic, whereas the 12q24.33 microduplication was classified as a variant of uncertain significance (VUS). …”
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TMEM101 expression and its impact on immune cell infiltration and prognosis in hepatocellular carcinoma
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2024 Polish recommendations for the management of familial hypercholesterolemia in children and adolescents
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Genetic Analyses on Transgender Individuals: Impact on Physician Attitudes and Surgical Decision‐Making
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Analysis of Polymorphisms in the Lactotransferrin Gene Promoter and Dental Caries
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