Work

CAMTA1 Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia

Year: 2025

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.70065

Authors: So Young Lee, Jun Hwan Choi, Hyun Jung Lee

Institutions: Jeju National University Hospital, Jeju National 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

OpenAlex ID: W4414081350

FWCI:

Cites: 5

Cited by:

Related to: 10