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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD1

Variant:p.I558T

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ABCD1

NM_000033.4:p.I558T

hg38:chrX:153740612 T>C

Associated Papers

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

Kumar N et al.

Plos One, 2011

21966424 (PubMed )

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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."