Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Q645*
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ABCD1

NM_000033.4:p.Q645*

Associated Papers

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

Smith KD et al.

Neurochemical Research, 1999

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

Kemp S et al.

Nature Medicine, 1998

Mutations in the adrenoleukodystrophy gene.

Dodd A et al.

Human Mutation, 1997

Altered expression of ALDP in X-linked adrenoleukodystrophy.

Watkins PA et al.

American Journal of Human Genetics, 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."