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Additional file 4: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

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Figshare2018-03-20 更新2026-04-29 收录
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https://figshare.com/articles/dataset/Additional_file_4_of_Clinical_utility_of_exome_sequencing_in_individuals_with_large_homozygous_regions_detected_by_chromosomal_microarray_analysis/6003398
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资源简介:
Details of rare homozygous variants discovered in 74% (39/53) of the ROH cases that has variants relevant or potentially relevant to the phenotype of the patient. (XLSX 32Â kb)
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2018-03-20
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