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Updated: Jun 12, 2025

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影响p.Gly392的致病性SATB2误解变体具有可变的功能影响,并导致不同的临床表型

Joery den Hoed1, Hirokazu Hashimoto2,3, Mubeen Khan1

  • 1Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, Netherlands.

Journal of medical genetics
|September 26, 2024
PubMed
概括

SATB2相关综合征 (SAS) 是由SATB2基因变异引起的. 这项研究表明,特定的SATB2变异,特别是p.Gly392Arg,导致更严重的神经发育结果,表明复杂的基因型-表型相关性.

关键词:
遗传学,医学医学基因造型技术的基因定型技术功能丧失 突变 突变现象型 现象型 是一种表现型.

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