Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.N509I
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ABCD1

NM_000033.4:p.N509I

Associated Papers

Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.

Xiong C et al.

Signal Transduction and Targeted Therapy, 2023

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

[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].

Pan H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

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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."