Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R617L
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ABCD1

NM_000033.4:p.R617L

Associated Papers

Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset Cerebral X-linked Adrenoleukodystrophy.

Sharma R et al.

Parkinsonism & Related Disorders, 2025

Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy: Expert commentary Marcelo Kauffman, MD, PhD.

Kauffman M

Parkinsonism & Related Disorders, 2025

Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.

Kumar N et al.

Journal of Genetics, 2010

Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.

Soardi FC et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2010

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

Coll MJ et al.

Clinical Genetics, 2005

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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."