View in EDS HTML Full Text PDF Full Text

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

Saved in:
Bibliographic Details
Title: Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42308225
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Lo+RS%22">Lo RS</searchLink>; Pacific Northwest Research Institute, Seattle, Washington, United States of America.<br /><searchLink fieldCode="AU" term="%22Cromie+GA%22">Cromie GA</searchLink>; Pacific Northwest Research Institute, Seattle, Washington, United States of America.<br /><searchLink fieldCode="AU" term="%22Tang+M%22">Tang M</searchLink>; Pacific Northwest Research Institute, Seattle, Washington, United States of America.<br /><searchLink fieldCode="AU" term="%22Sirr+A%22">Sirr A</searchLink>; Pacific Northwest Research Institute, Seattle, Washington, United States of America.<br /><searchLink fieldCode="AU" term="%22Caldovic+L%22">Caldovic L</searchLink>; Center for Precision Medicine and Genomics Research, Children's National Research Institute, Children's National Hospital, Washington, District of Columbia, United States of America.<br /><searchLink fieldCode="AU" term="%22Morizono+H%22">Morizono H</searchLink>; Center for Precision Medicine and Genomics Research, Children's National Research Institute, Children's National Hospital, Washington, District of Columbia, United States of America.<br /><searchLink fieldCode="AU" term="%22Ah+Mew+N%22">Ah Mew N</searchLink>; Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, United States of America.<br /><searchLink fieldCode="AU" term="%22Gropman+A%22">Gropman A</searchLink>; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America.<br /><searchLink fieldCode="AU" term="%22Dudley+AM%22">Dudley AM</searchLink>; Pacific Northwest Research Institute, Seattle, Washington, United States of America.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2026 Jun 17; Vol. 22 (6), pp. e1012167. <i>Date of Electronic Publication: </i>2026 Jun 17 (<i>Print Publication: </i>2026).
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Public+Library+of+Science%22">Public Library of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101239074 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1553-7404 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215537390%22">15537390 </searchLink><i>NLM ISO Abbreviation: </i>PLoS Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42308225
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1371/journal.pgen.1012167
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: e1012167
    Titles:
      – TitleFull: Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Lo RS
      – PersonEntity:
          Name:
            NameFull: Cromie GA
      – PersonEntity:
          Name:
            NameFull: Tang M
      – PersonEntity:
          Name:
            NameFull: Sirr A
      – PersonEntity:
          Name:
            NameFull: Caldovic L
      – PersonEntity:
          Name:
            NameFull: Morizono H
      – PersonEntity:
          Name:
            NameFull: Ah Mew N
      – PersonEntity:
          Name:
            NameFull: Gropman A
      – PersonEntity:
          Name:
            NameFull: Dudley AM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 17
              M: 06
              Text: 2026 Jun 17
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1553-7404
          Numbering:
            – Type: volume
              Value: 22
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: PLoS genetics
              Type: main
ResultId 1