Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R172insFs
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ABCD1

NM_000033.4:p.R172insFs

Associated Papers

Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen.

Resnick IB et al.

Clinical Transplantation, 2005

Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.

Hershkovitz E et al.

Annals of Neurology, 2002

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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."