Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R259W
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ABCD1

NM_000033.4:p.R259W

Associated Papers

Preimplantation Genetic Testing Inhibits the Transmission of Pathogenic Variants Associated With Cerebral White Matter Disease.

Huang X et al.

Cureus, 2024

Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.

Lan F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Two novel multiple mutations in chinese patients with adrenoleukodystrophy.

Ke LF et al.

Neuropediatrics, 2010

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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."