Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

Congenit Anom (Kyoto) 2018 Sep 20;58(5):181-182. Epub 2018 Feb 20.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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Source
http://dx.doi.org/10.1111/cga.12275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338226PMC
September 2018
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