Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R152C
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ABCD1

NM_000033.4:p.R152C

Associated Papers

Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy.

Jiang W et al.

Acta Neurologica Belgica, 2023

Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.

Kawaguchi K et al.

Chemical & Pharmaceutical Bulletin, 2022

[X-linked adrenoleukodystrophy with an atypical radiological pattern].

Ulate-Campos A et al.

Revista De Neurologia, 2018

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Yubero D et al.

Plos One, 2016

27243974 (PubMed )
Supplement: pone.0156359.s002.xlsx › general_

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

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

Montagna G et al.

Human Mutation, 2005

Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene.

Larner AJ

Journal of Neurology, 2003

Mutational analysis of X-linked adrenoleukodystrophy gene.

Takano H et al.

Cell Biochemistry and Biophysics, 2000

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Smith KD et al.

Neurochemical Research, 1999

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

Feigenbaum V et al.

American Journal of Human Genetics, 1996

Adrenoleukodystrophy.

Moser HW

Current Opinion in Neurology, 1995

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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."