Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly | Laila Abd Elmotelab

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Citation:: Ghosh, S. G., Lu Wang, M. W. Breuss, J. D. Green, V. Stanley, Xiaoxu Yang, and L. Selim, "Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly", Journal of medical genetics,2020; 57 (4), 274-28257, vol. 57, issue 4, pp. 274-282, 2020.