Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L628Q
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ABCD1

NM_000033.4:p.L628Q

Associated Papers

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

Saute JA et al.

Arquivos De Neuro-psiquiatria, 2016

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

Pereira Fdos S et al.

Plos One, 2012

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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."