Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S515F
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ABCD1

NM_000033.4:p.S515F

Associated Papers

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

Jiang W et al.

Acta Neurologica Belgica, 2023

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

The etiology and clinical features of non-CAH primary adrenal insufficiency in children.

Liu Z et al.

Frontiers in Pediatrics, 2022

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.

Zhang Y et al.

Genes & Diseases, 2021

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

Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier.

Chen X et al.

Gene, 2014

Predicted structures of two proteins involved in human diseases.

Zhou HX et al.

Cell Biochemistry and Biophysics, 2001

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

[Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings].

Vorgerd M et al.

Der Nervenarzt, 1998

Mutations in the adrenoleukodystrophy gene.

Dodd A et al.

Human Mutation, 1997

A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.

Vorgerd M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."