Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R617S
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ABCD1

NM_000033.4:p.R617S

Associated Papers

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

Zhang Y et al.

Neuropsychiatric Disease and Treatment, 2025

Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.

Chen ZP et al.

Nature Communications, 2022

35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf

Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.

Liu S et al.

Molecular Genetics & Genomic Medicine, 2022

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

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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."