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Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature
Author(s) -
Galada Chelna,
Hebbar Malavika,
Lewis Leslie,
Soans Santosh,
Kadavigere Rajagopal,
Srivastava Anshika,
Bielas Stephanie,
Girisha Katta M.,
Shukla Anju
Publication year - 2018
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12275
Subject(s) - microcephaly , exome sequencing , missense mutation , compound heterozygosity , exon , genetics , exome , global developmental delay , biology , medicine , mutation , phenotype , gene
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