Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases

Published 2019 View Full Article

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Title
Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases
Authors
Keywords
Asparagine synthetase deficiency, Microcephaly, ASNS gene, In silico characterization
Journal
GENE
Volume 704, Issue -, Pages 97-102
Publisher
Elsevier BV
Online
2019-04-09
DOI
10.1016/j.gene.2019.04.024

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