Associated Papers
COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.
Zheng Y et al.
Cell Discovery, 2024
38413569 (PubMed )
Supplement: 41421_2023_641_MOESM1_ESM.pdf
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Rosati J et al.
American Journal of Medical Genetics. Part A, 2023
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