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Updated: Feb 28, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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多态结构基因组学可实现ABCC6遗传变异的大规模,机械和特定环境分类,这些变异涉及化疾病.

Jessica B Wagenknecht1, Neshatul Haque1, Salomao D Jorge2

  • 1Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

International journal of molecular sciences
|February 27, 2026
PubMed
概括

新的ABCC6蛋白3D模型有助于对导致PXE和GACI的遗传变异进行分类. 这种方法重新分类了41%的不确定的变异,改善了对这些化障碍的诊断.

关键词:
ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC6ABCC婴儿时期的一般性动脉化.基因组解释 基因组解释精准医学是一门精准医学.伪Xanthoma 弹性 (Elasticum) 是一个假象.变种优先级排名 变种优先级排名

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