Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R389G
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ABCD1

NM_000033.4:p.R389G

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Amprosi M et al.

Journal of Neurology, 2026

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

Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.

Wang R et al.

Cell Research, 2022

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

Pereira Fdos S et al.

Plos One, 2012

Mutational analysis of X-linked adrenoleukodystrophy gene.

Takano H et al.

Cell Biochemistry and Biophysics, 2000

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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."