Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L605R
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ABCD1

NM_000033.4:p.L605R

Associated Papers

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.

Schieferdecker A et al.

International Journal of Molecular Sciences, 2019

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

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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."