Work

Enhanced Comprehension of the Pathogenicity of Splicing Variants

Year: 2025

Type: article

Source: Journal of Molecular Diagnostics

DOI: 10.1016/j.jmoldx.2025.10.006

Authors: Yan Xu, Bin Hu, Xu Han, Yiyao Chen, Jingqi Lin, Yanlin Wang, Jian Wang, Niu Li, Shuyuan Li

Institutions: Shanghai Jiao Tong University, International Peace Maternity & Child Health Hospital, Fudan University, Obstetrics and Gynecology Hospital of Fudan University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Shanghai Municipal Health Commission, National Natural Science Foundation of China

Awards: G3209330762, G8571062599

OpenAlex ID: W4415704317

FWCI: 0.584

Cites: 19

Cited by: 1

Related to: 10