Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A616T
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ABCD1

NM_000033.4:p.A616T

Associated Papers

Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.

Chen ZP et al.

Nature Communications, 2022

35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf

Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy.

Morita M et al.

Jimd Reports, 2019

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Engelen M et al.

Brain : a Journal of Neurology, 2014

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.

Zhang X et al.

The Biochemical Journal, 2011

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