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Updated: Sep 11, 2025

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作为神经发育障碍候选基因的ZNF496:鉴定了一种致病性De Novo框架转移变异

Francesco Calì1, Miriam Virgillito2, Simone Treccarichi1

  • 1Oasi Research Institute-IRCCS, 94018 Troina, Italy.

International journal of molecular sciences
|August 14, 2025
PubMed
概括

在一个患有神经发育障碍,包括智力障碍和发育协调障碍的患者身上,发现了ZNF496基因的新型致病变体. 这一发现表明ZNF496是ZNF496.

关键词:
在C2H2指域中.在JARID2中,JARID2是两个字.KRAB 域名 KRAB 域名 KRAB 域名ZNF496 是一个神经发育障碍 神经发育障碍指蛋白质 是一种指蛋白质.

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