Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Q590*
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ABCD1

NM_000033.4:p.Q590*

Associated Papers

Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy.

Miller D et al.

Radiology Case Reports, 2024

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

Mutations in the adrenoleukodystrophy gene.

Dodd A et al.

Human Mutation, 1997

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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."