A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene
Abstract Mutations in the neuroblastoma amplified sequence (NBAS) gene correlate with infantile acute liver failure (ALF). Herein, we identified a novel NBAS mutation in a female infant diagnosed with recurrent ALF. Whole-exome and Sanger sequencing revealed that the proband carried a compound heter...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2023-04-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-023-00241-0 |