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Pathogenic GNPTAB gene mutation summary in our 16 patients.
Pathogenic GNPTAB gene mutation summary in our 16 patients.
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Figshare
2016-09-24 更新
2026-04-29 收录
遗传病基因突变
临床遗传学分析
数据链接:
https://figshare.com/articles/dataset/Pathogenic_i_GNPTAB_i_gene_mutation_summary_in_our_16_patients_/3857460
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资源简介:
Pathogenic GNPTAB gene mutation summary in our 16 patients.
应用场景:
创建时间:
2016-09-24
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