样本编号 SAMC2309786
外部数据库编号 GSA-Human: HRS442709
样品名称 D1DNA
样本标题 CFAP43 mutation propositus
样品类型 Human sample
物种名称 Homo sapiens
描述信息 propositus
样本属性 *该样本包含更多受控访问信息,请通过GSA-Human系统申请项目HRA002987数据获取。
发布日期 2024-09-06
项目编号 PRJCA011671
提交者 Guoning  Huang  (gnhuang217@sina.com)
提交单位 Chongqing Health Center for Women and Children
提交日期 2023-06-18

样本包含数据信息

资源名称 描述
GSA-Human (1) -
HRA002987  (Controlled Access) Mutations in CFAP43 are one of the main causative factors of multiple morphological abnormali-ties of the sperm flagella (MMAF) proven so far. We aim to identify the CFAP43 mutations in Chinese patients with MMAF and describe their clinical outcomes of assisted reproductive technology (ART). A total of 30 MMAF patients were recruited and underwent a 22-gene next-generation sequencing panel screening.
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