Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.I657del1
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ABCD1

NM_000033.4:p.I657del1

Associated Papers

Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).

Son D et al.

Stem Cell Research, 2017

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.

van Geel BM et al.

Journal of Inherited Metabolic Disease, 2015

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

Smith KD et al.

Neurochemical Research, 1999

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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."