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Updated: Sep 14, 2025

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与TTC7A相关的胃肠道缺陷和免疫缺陷综合征中的基因型-表型相关性 1

Julia Imhoff1, Hans Christian Schmidt1, Matthias Hans Belau2

  • 1Department of Pediatric Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

American journal of medical genetics. Part A
|July 21, 2025
PubMed
概括

胃肠道缺陷和免疫缺陷综合征1 (GIDID1) 与TTC7A基因变异有关. 功能丧失的变体与严重的疾病和缩短的寿命有关,而错误的变体与较轻的症状相关.

关键词:
在CID CID中,你会发现.这就是PI4KIIIa.这里是SCIDID SCID.酸氨基醇4-酶IIIαα四基重复域 7A 复制域 7A

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