dataset related to article "Clinical, molecular and glycophenotype insights in SLC39A8-CDG"
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资源简介：
NGS data (.vcf; .bam; .bam.bai; .csv; .fastq) of patient analysed and sanger sequencing (.abi) for confirm the mutation and segregation in the family (mather, father and sibling)
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Zenodo创建时间：
2022-03-17
