Harmonizing gene nomenclature and disease classification for ADSS1 myopathy

Orphanet Journal of Rare Diseases · Published 2026-08-05 · DOI 10.1186/s13023-026-04535-8

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Authors (5)

Emma Rybalka, Oleg A. Shchelochkov, Merve Koç Yekedüz, Jaymin Upadhyay, Alan H. Beggs

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Publication details

Year

2026

Citation

Rybalka, E., Shchelochkov, O., Yekedüz, M., et al. (2026). Harmonizing gene nomenclature and disease classification for ADSS1 myopathy. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-026-04535-8

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