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Amedeo Smart

Independent Medical Education


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Akesson LS, Bournazos A, Fennell A, Krzesinski EI, et al. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Hum Mutat 2020 Sep 9. doi: 10.1002/humu.24101.
PMID: 32906196


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