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基因注释:PDZD7

官方信息

官方名称:PDZ domain containing 7

功能摘要:This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010].

作为靶基因的剪接因子
  • Tardbp 综合评分: 0.356 · 证据 1 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • PCBP2 综合评分: 0.200 · 证据 1 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • NXF1 综合评分: 0.162 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

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