Article

Shukla, A. and Das Bhowmik, A. and Hebbar, Malavika and Rajagopal, K.V. and Girisha, K.M. and Gupta, N. and Dalal, Ashwin (2018) Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. Journal of Human Genetics, 63 (1). pp. 19-25. ISSN 1434-5161