View in EDS

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.

Saved in:
Bibliographic Details
Title: Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.
Authors: Tan X; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China., Huang Y; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China., Wei X; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China., Lai Q; Department of Ultrasound, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China., Pang L; Department of Pathology, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China., Lan J; Department of Ophtalmology, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China., Liu Q; GMU-GIBH Joint School of Life Sciences, The Guangdong-Hong Kong-Macao Joint Laboratory for Cell Fate Regulation and Diseases, Guangzhou Medical University, Guangzhou, 511436, China., Qin J; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China., Zeng F; Institute of Molecular Precision Medicine, Xiangya Hospital, Key Laboratory of Molecular Precision Medi-cine of Hunan Province and Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, 410008, China., Chen L; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China., Yuan D; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China. yuandejian@163.com.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China. yuandejian@163.com.
Source: BMC medical genomics [BMC Med Genomics] 2026 May 09; Vol. 19 (1). Date of Electronic Publication: 2026 May 09.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42106822
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Tan+X%22">Tan X</searchLink>; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Huang+Y%22">Huang Y</searchLink>; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Wei+X%22">Wei X</searchLink>; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Lai+Q%22">Lai Q</searchLink>; Department of Ultrasound, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Pang+L%22">Pang L</searchLink>; Department of Pathology, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Lan+J%22">Lan J</searchLink>; Department of Ophtalmology, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Liu+Q%22">Liu Q</searchLink>; GMU-GIBH Joint School of Life Sciences, The Guangdong-Hong Kong-Macao Joint Laboratory for Cell Fate Regulation and Diseases, Guangzhou Medical University, Guangzhou, 511436, China.<br /><searchLink fieldCode="AU" term="%22Qin+J%22">Qin J</searchLink>; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Zeng+F%22">Zeng F</searchLink>; Institute of Molecular Precision Medicine, Xiangya Hospital, Key Laboratory of Molecular Precision Medi-cine of Hunan Province and Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, 410008, China.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China.<br /><searchLink fieldCode="AU" term="%22Yuan+D%22">Yuan D</searchLink>; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545001, China. yuandejian@163.com.; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, 545001, China. yuandejian@163.com.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2026 May 09; Vol. 19 (1). <i>Date of Electronic Publication: </i>2026 May 09.
– 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42106822
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12920-026-02385-8
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tan X
      – PersonEntity:
          Name:
            NameFull: Huang Y
      – PersonEntity:
          Name:
            NameFull: Wei X
      – PersonEntity:
          Name:
            NameFull: Lai Q
      – PersonEntity:
          Name:
            NameFull: Pang L
      – PersonEntity:
          Name:
            NameFull: Lan J
      – PersonEntity:
          Name:
            NameFull: Liu Q
      – PersonEntity:
          Name:
            NameFull: Qin J
      – PersonEntity:
          Name:
            NameFull: Zeng F
      – PersonEntity:
          Name:
            NameFull: Chen L
      – PersonEntity:
          Name:
            NameFull: Yuan D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 09
              M: 05
              Text: 2026 May 09
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1755-8794
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: BMC medical genomics
              Type: main
ResultId 1