Work

A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation

Year: 2025

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.14771

Authors: S. Rehan Ahmad, Natchimuthu Vijayakumar, Nazim Nasir

Institutions: Hiralal Mazumdar Memorial College for Women, West Bengal State University, M. Kumarasamy College of Engineering, King Khalid University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4410410790

FWCI: 0.537

Cites: 10

Cited by: 1

Related to: 10