Work

A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family

Year: 2024

Type: article

Abstract: gene mutations in the screening of Huntington's patients.

Source: Heliyon

DOI: 10.1016/j.heliyon.2024.e39128

Authors: Majed Alluqmani, Shahid Iqbal, Sulman Basit

Institutions: Taibah University, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,100

Funders: Taibah University, Ministry of Education – Kingdom of Saudi Arabi

Award: G175309345

OpenAlex ID: W4403260250

FWCI: 0.157

Cites: 33

Cited by: 1

Related to: 10