@inproceedings{inproceedings499f30b9, title = {Asparagine synthetase deficiency detected by whole exome sequencing: the first description in two brazilians siblings}, author = {Grangeiro, C. H. P. and Huber, Jair and Martelli, Lúcia Regina}, year = {2017}, publisher = {FMRP-USP}, booktitle = {Workshop do Programa de Pós-Graduação em Genética da FMRP-USP} }