Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency
- Resource Type
- Article
- Authors
- Muniz, Joao R.C. ; Szeto, Natalie Wing-sum ; Frise, Rebecca; Lee, Wen Hwa; Wang, Xian-song; Thöny, Beat; Himmelreich, Nastassja; Blau, Nenad; Hsiao, Kwang-Jen; Liu, Tze-Tze; Gileadi, Opher; Oppermann, Udo; Von Delft, Frank; Yue, Wyatt W. ; Tang, Nelson Leung-sang
- Source
- In Pathology April 2019 51(3):274-280
- Subject
- Language
- ISSN
- 0031-3025