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Role of a novel neuroblastoma amplified sequence mutation, c.1342T>C (p.Cys448Arg), in an infant with fever-triggered recurrent acute liver failure

2022-10-17

Abstract excerpt

<title>Abstract</title> <p>Mutations localized in the neuroblastoma amplified sequence (NBAS) gene correlate with infantile liver failure syndrome 2. In this study, we identified a novel NBAS mutation in a 26-month-old Chinese female diagnosed with fever-triggered recurrent acute liver failure (ALF). The proband exhibited highly elevated liver enzymes, severe coagulopathy, and acute renal failure. Whole-exome and...

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Literature Corpus work
3806a9c2-200b-54f9-8c37-ee4b90865c31
DOI
10.21203/rs.3.rs-2123724/v1
Open publication

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Role of a novel neuroblastoma amplified sequence mutation, c.1342T&gt;C (p.Cys448Arg), in an infant with fever-triggered recurrent acute liver failureDOI 10.21203/rs.3.rs-2123724/v1
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