Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G607D
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ABCD1

NM_000033.4:p.G607D

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

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.

Lotz-Havla AS et al.

Journal of Proteome Research, 2021

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.

Matteson J et al.

International Journal of Neonatal Screening, 2021

33920672 (PubMed )
Supplement: IJNS-07-00022-s001.zip › IJNS-1144684-SI.xlsx › Supplemental_Table_-_Variants

Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane.

Hillebrand M et al.

The Journal of Biological Chemistry, 2012

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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."