Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A141V
Back to variants list

ABCD1

NM_000033.4:p.A141V

Associated Papers

Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.

Videbæk CS et al.

Molecular Genetics and Metabolism, 2025

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.

Zhang Y et al.

Neuropsychiatric Disease and Treatment, 2025

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf

Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.

Hu C et al.

Genes, 2022

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

Tran C et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."