Article

From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular Consequences

2025-05-20

Abstract excerpt

Disorders of vesicular trafficking and genetic defects in autophagy play a critical role in the development of metabolic and neurometabolic diseases. These processes govern intracellular transport and lysosomal degradation, thereby maintaining cellular homeostasis.In this article, we present two siblings with a novel homozygous variant in VPS51 gene (c.1511C>T; p.Thr504Met), exhibiting developmental delay, a th...

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Literature Corpus work: e8f0943d-f09b-55f8-a4e2-22e2e53ce2da
DOI: 10.20944/preprints202505.1434.v1

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