Publications
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Author Title [ Year
] Filters: Keyword is Mutation and Author is Prada, Carlos E [Clear All Filters]
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet 57, 339-344 (2014).
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
