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Updated: Apr 7, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous IVD Variants: Clinical

Zhi Deng1, Guojing Wu1, Shangqing Chen1

  • 1Department of Pediatric Endocrinology and Inherited Metabolic Guangdong Women and Children Hospital Guangzhou China.

Clinical Case Reports
|April 6, 2026
PubMed

Keywords:
IVD genegenetic testingisovaleric acidemiatandem mass spectrometry

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