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Updated: Jan 16, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals

Ferdinando Barretta1, Fabiana Uomo1,2, Alessandra Verde3

  • 1CEINGE Biotecnologie Avanzate-Franco Salvatore s.c.ar.l., 80131 Naples, Italy.

Genes
|September 27, 2025
PubMed
Abstract

Keywords:
GSTZ1 mutationsmRNA analysismaleylacetoacetate isomerase deficiencynewborn screeningsuccinylacetonetyrosinemia type 1

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