Work

Functional Characterization of a Novel GPC3 Missense Variant in Simpson–Golabi–Behmel Syndrome

Year: 2025

Type: article

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.64287

Authors: Teresa Zhao, Kirsten Allan, Juliet Taylor, David R. Thorburn, Susan M. White, Tiong Y. Tan, John Christodoulou, Natalie B. Tan, David A. Stroud

Institutions: Royal Children's Hospital, The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The University of Sydney

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: Royal Children's Hospital Foundation, University of Melbourne, Pierce Armstrong Foundation

OpenAlex ID: W4415428426

FWCI: 0.535

Cites: 39

Cited by: 1

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