Associated Papers
A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.
Deng Y et al.
Birth Defects Research, 2025
Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.
Zhou F et al.
Molecular Biology Reports, 2024
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
Yang Q et al.
Molecular Genetics & Genomic Medicine, 2024
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T et al.
American Journal of Human Genetics, 2021
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