Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.K209M
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ABCD3

NM_002858.4:p.K209M

Associated Papers

Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).

Hillebrand M et al.

The Journal of Biological Chemistry, 2007

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

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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."