Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G551D
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ABCD1

NM_000033.4:p.G551D

Associated Papers

The bidirectional relationship between CFTR and lipids.

Cottrill KA et al.

Communications Biology, 2020

Mechanics and pharmacology of substrate selection and transport by eukaryotic ABC exporters.

Srikant S et al.

Nature Structural & Molecular Biology, 2019

A novel natural product compound enhances cAMP-regulated chloride conductance of cells expressing CFTR[delta]F508.

deCarvalho AC et al.

Molecular Medicine (cambridge, Mass.), 2002

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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."