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A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.

Clinical neurology and neurosurgery - 1 Mar 2021

Cakmak Celik Fatma, Ozlu Mehmet Mustafa, Ceylaner Serdar

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PMID: 33497949
DOI: 10.1016/j.clineuro.2021.106506

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