Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.V530M
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ABCD1

NM_000033.4:p.V530M

Associated Papers

Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.

Neumann S et al.

Genetic Testing, 2001

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.

Lira MG et al.

Human Mutation, 2000

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

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Fuchs S et al.

Human Molecular Genetics, 1994

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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."