Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.
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| Title: | Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I. |
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| Authors: | Lo RS; Pacific Northwest Research Institute, Seattle, Washington, United States of America., Cromie GA; Pacific Northwest Research Institute, Seattle, Washington, United States of America., Tang M; Pacific Northwest Research Institute, Seattle, Washington, United States of America., Sirr A; Pacific Northwest Research Institute, Seattle, Washington, United States of America., Caldovic L; Center for Precision Medicine and Genomics Research, Children's National Research Institute, Children's National Hospital, Washington, District of Columbia, United States of America., Morizono H; Center for Precision Medicine and Genomics Research, Children's National Research Institute, Children's National Hospital, Washington, District of Columbia, United States of America., Ah Mew N; Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, United States of America., Gropman A; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America., Dudley AM; Pacific Northwest Research Institute, Seattle, Washington, United States of America. |
| Source: | PLoS genetics [PLoS Genet] 2026 Jun 17; Vol. 22 (6), pp. e1012167. Date of Electronic Publication: 2026 Jun 17 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1553-7404 |
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| DOI: | 10.1371/journal.pgen.1012167 |
