Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines
Abstract Whole-exome sequencing (WES), one of the next-generation sequencing (NGS), has become a powerful tool to identify exonic variants. Investigating causality of the sequence variants in human disease becomes an important part in NGS for the research and clinical applications. Recently, importa...
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| Auteurs principaux: | , , , , , , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Nature Portfolio
2017
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| Accès en ligne: | https://doaj.org/article/2c9660dc723f4dc5a26d3e4f3edf3d8e |
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