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Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

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Description article by Jaclyn B Murry et al published August 2018 in Cold Spring Harbor molecular case studies
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author: Alan H. Beggs  Timothy W Yu  Amy L McGuire  Ingrid A Holm  Matthew S Lebo  Robert C. Green 

Publication date August 2018
Language English
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