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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Diving deep: Finding pathogenic intronic variants and making them actionable

Benedikt Schaefer¹, Heinz Zoller²

¹Medical University of Innsbruck, Department of Internal Medicine I, Gastroenterology, Hepatology, Endocrinology and Metabolism, Anichstrasse 35, A-6020 Innsbruck, Austria.

Journal of Hepatology

|April 17, 2025

Summary

No abstract available in PubMed .

Keywords:

antisense oligonucleotide citrin deficiency citrullinemia inborn errors of metabolism pseudo-exon steatosis

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