Work

Aicardi—Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population

Year: 2025

Type: article

Study design: Case Report

Source: S S Korsakov Journal of Neurology and Psychiatry

DOI: 10.17116/jnevro2025125011131

Authors: D.V. I, S.A. Seregin, T.N. Proskokova

Institution: Far Eastern State Medical University

Language: English

Topic: RNA regulation and disease

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4407345975

FWCI:

Cites: 47

Cited by:

Related to: 10