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Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I
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| Published in: | PLoS Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1868553991225344000 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | PLoS Genetics |
| description | |
| discipline_display | Genetics |
| discipline_facet | Genetics |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:93296 |
| institution | FRELIP |
| journal_source_facet | PLoS Genetics |
| last_indexed | 2026-06-20T21:45:41.950Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I Genetics General Genetics |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Genetics General Genetics |
| subject_facet | Genetics General Genetics |
| title | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I |
| title_alt | Perfil funcional de 2.193 variantes de missense de ASS1: perspectivas sobre la patogenicidad de variantes e interacciones epistáticas en citrulinemia tipo I Profilage fonctionnel de 2 193 variants faux-sens ASS1 : perspectives sur la pathogénicité des variants et les interactions épistatiques dans la citrullinémie de type I Perfil funcional de 2.193 variantes de missense do ASS1: Insights sobre patogenicidade de variantes e interações epistáticas na citrulinemia tipo I |
| title_auth | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I |
| title_es_txt | Perfil funcional de 2.193 variantes de missense de ASS1: perspectivas sobre la patogenicidad de variantes e interacciones epistáticas en citrulinemia tipo I |
| title_fr_txt | Profilage fonctionnel de 2 193 variants faux-sens ASS1 : perspectives sur la pathogénicité des variants et les interactions épistatiques dans la citrullinémie de type I |
| title_full | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I |
| title_fullStr | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I |
| title_full_unstemmed | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I |
| title_pt_txt | Perfil funcional de 2.193 variantes de missense do ASS1: Insights sobre patogenicidade de variantes e interações epistáticas na citrulinemia tipo I |
| title_short | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I |
| title_sort | functional profiling of 2,193 ass1 missense variants: insights into variant pathogenicity and epistatic interactions in citrullinemia type i |
| topic | Genetics General Genetics |
| url | https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1012167 |