NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy
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author: Patryk Lipinski Dariusz Rokicki Agnieszka Bakuła Dorota Piekutowska-Abramczuk |
| Publication date | October 2021 |
| Language | English |
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