Publications
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Filters: Keyword is Infant and Author is Zapata, Gladys [Clear All Filters]
Syndromic congenital myelofibrosis associated with a loss-of-function variant in . Blood. 2018 ;132(6):658-662.
. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
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