Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets - Bozkurt-Yozgatli, Tugce; Lun, Ming Yin; Bengtsson, Jesse D.; Sezerman, Ugur; Chinn, Ivan K.; Coban-Akdemir, Zeynep; Carvalho, Claudia M. B. (European journal of human genetics : EJHG, 2025)
Keywords: 631/208/212/2301; 692/420/2489/144; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Chromosome Inversion; Chromosomes; Comparative analysis; Cytogenetics; Datasets; Fistula; Gene Expression; Genes; Genetic disorders; Genetic testing; Genomics; Histiocytosis; Human Genetics; Humans; Inversion; Lymphocytosis; Membrane Proteins - genetics; Molecular weight; Phenotypes; Release dates; Whole genome sequencing