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並前往https://www.researchgate.net/publication/329153386_Application_of_BIG-Annotator_in_the_genome_sequencing_data_functional_annotation_and_genetic_diagnosis

(PDF) Application of BIG-Annotator in the genome sequencing ...

同类型的基因定义系统(如RefSeq、UCSC、Ensemble ... Table 4 List of mutations occurring in the exon region of COL1A2.

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