Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.S572I
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ABCD3

NM_002858.4:p.S572I

Associated Papers

Ceapins block the unfolded protein response sensor ATF6α by inducing a neomorphic inter-organelle tether.

Torres SE et al.

Elife, 2019

Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.

Gärtner J et al.

Endocrine Research, 2002

Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.

Roerig P et al.

Febs Letters, 2001

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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."