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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Yi Luo

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Review Open access Oct 2026

SLC52A2-Related Riboflavin Transporter Deficiency in Non-Isolated Auditory Neuropathy: Evidence from a Chinese Cohort and a Global Variant Review

Background/Objectives: Riboflavin transporter deficiency type 2 (RTD2), caused by biallelic pathogenic variants in SLC52A2, is a treatable neurodegenerative disorder in which auditory neuropathy may be an early manifestation. This study characterized the clinical and genetic spectrum of SLC52A2-related RTD2, with empha...

Li Wang, Jin Li, Wen-Jing Wang et al. · 0 citations

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