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

Autor:	Chelna, Galada, Malavika, Hebbar, Leslie, Lewis, Santosh, Soans, Rajagopal, Kadavigere, Anshika, Srivastava, Stephanie, Bielas, Katta M, Girisha, Anju, Shukla
Rok vydání:	2017
Předmět:	Muscle Spasticity Developmental Disabilities Homozygote Mutation Exome Sequencing Microcephaly Gene Expression Humans Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor Exons Magnetic Resonance Imaging Article
Zdroj:	Congenital anomalies. 58(5)
ISSN:	1741-4520
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::6dc3060f1c49a3c9bd0652e58f9e8441 https://pubmed.ncbi.nlm.nih.gov/29405484 Zobrazit plný text záznamu Plný text