@article{articled461eb51,
title   = {Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency},
author = {Muniz, João Renato Carvalho and Szeto, Natalie Wing-Sum and Frise, Rebecca and Lee, Wen Hwa and Wang, Xian-Song and Thöny, Beat and Himmelreich, Nastassja and Blau, Nenad and Hsiao, Kwang-Jen and Liu, Tze-Tze and Gileadi, Opher and Oppermann, Udo and Von Delft, Frank and Yue, Wyatt W. and Tang, Nelson Leung-Sang},
year = {2019},
doi = {10.1016/j.pathol.2018.11.011},
journal   = {Pathology}
}