Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.
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K. Hsiao | F. von Delft | W. Yue | O. Gileadi | U. Oppermann | N. Blau | B. Thöny | N. Himmelreich | N. Tang | J. Muniz | Tze-tze Liu | W. H. Lee | Xian-song Wang | R. Frise | Natalie Wing-Sum Szeto