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
Description
ISSN:1755-8794
DOI:10.1186/s12920-026-02385-8