Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency-Reference-Cited by-同舟云学术

Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency

Published:2019-04 Issue:3 Volume:51 Page:274-280
ISSN:0031-3025
Container-title:Pathology
language:en
Short-container-title:Pathology

Author:

Muniz Joao R.C.,Szeto Natalie Wing-sum,Frise Rebecca,Lee Wen Hwa,Wang Xian-song,Thöny Beat,Himmelreich Nastassja^ORCID,Blau Nenad,Hsiao Kwang-Jen^ORCID,Liu Tze-Tze,Gileadi Opher^ORCID,Oppermann Udo,Von Delft Frank^ORCID,Yue Wyatt W.,Tang Nelson Leung-sang

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

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4. Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene;Nucleic Acid Therapeutics;2022-10-01

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