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

Chelna GaladaMalavika HebbarLeslie LewisSantosh SoansRajagopal KadavigereAnshika SrivastavaStephanie BielasKatta M GirishaAnju Shukla
Published in: Congenital anomalies (2018)
Keyphrases
  • copy number
  • replacement therapy