Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

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ژورنال

عنوان ژورنال: Orphanet Journal of Rare Diseases

سال: 2020

ISSN: 1750-1172

DOI: 10.1186/s13023-020-01485-7