Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.E577*
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ABCD1

NM_000033.4:p.E577*

Associated Papers

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM9_ESM.xlsx › merge_mutation_filt_pair_contro

Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.

Habekost CT et al.

Metabolic Brain Disease, 2015

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

Habekost CT et al.

Orphanet Journal of Rare Diseases, 2014

24410807 (PubMed )
Supplement: 1750-1172-9-6-S1.pdf

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."