Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G594Splc
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ABCD1

NM_000033.4:p.G594Splc

Associated Papers

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Kallabi F et al.

Neuroscience Research, 2015

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

Zhang Z et al.

Human Mutation, 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."