Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.Y174C
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ABCD4

NM_005050.4:p.Y174C

Associated Papers

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.

Zhang X et al.

The Biochemical Journal, 2011

[Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].

Takahashi N et al.

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2007

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

Neumann S et al.

Genetic Testing, 2001

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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."