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New COLEC11 and MASP1/3 mutations in 3MC patient cohort
New COLEC11 and MASP1/3 mutations in 3MC patient cohort
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Figshare
2017-03-30 更新
2026-04-29 收录
遗传病基因突变
3MC综合征遗传分析
数据链接:
https://figshare.com/articles/dataset/New_i_COLEC11_i_and_i_MASP1_3_i_mutations_in_3MC_patient_cohort/4758937
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资源简介:
New COLEC11 and MASP1/3 mutations in 3MC patient cohort
应用场景:
创建时间:
2017-03-30
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