Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I

• Russell S. Lo,

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Validation, Writing – original draft, Writing – review & editing

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  https://orcid.org/0000-0002-0369-7259

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• Gareth A. Cromie,

  Roles Conceptualization, Formal analysis, Methodology, Software, Writing – original draft, Writing – review & editing

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  https://orcid.org/0000-0001-5265-1970

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• Michelle Tang,

  Roles Visualization, Writing – original draft

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  https://orcid.org/0000-0002-8779-8697

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• Amy Sirr,

  Roles Resources, Writing – original draft

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

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• Ljubica Caldovic,

  Roles Data curation, Writing – review & editing

  Affiliation Center for Precision Medicine and Genomics Research, Children’s National Research Institute, Children’s National Hospital, Washington, District of Columbia, United States of America

  https://orcid.org/0000-0002-9140-5585

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• Hiroki Morizono,

  Roles Formal analysis, Writing – review & editing

  Affiliation Center for Precision Medicine and Genomics Research, Children’s National Research Institute, Children’s National Hospital, Washington, District of Columbia, United States of America

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• Nicholas Ah Mew,

  Roles Formal analysis, Writing – review & editing

  Affiliation Rare Disease Institute, Children’s National Hospital, Washington, District of Columbia, United States of America

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• Andrea Gropman,

  Roles Conceptualization, Funding acquisition, Writing – review & editing

  Affiliation Center for Experimental Neurotherapeutics, St. Jude Children’s Research Hospital, Memphis, Tennessee, United States of America

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• Aimée M. Dudley

  Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing

  * E-mail: aimee.dudley@gmail.com

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  https://orcid.org/0000-0003-3644-0625

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