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Updated: Jan 10, 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

Published on: June 6, 2025

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单个SCN1A相关的单个变体表现出不同的功能性质

Lanie N Liebovitz, Christopher H Thompson, Linda L Laux

    bioRxiv : the preprint server for biology
    |November 24, 2025
    PubMed
    概括

    致病性SCN1A变种可以引起. 即使是同一个编码子的变异也表现出不同的功能效应,影响病原性和疾病严重性的预测.

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    A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy06:58

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    Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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