Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Q556R
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ABCD1

NM_000033.4:p.Q556R

Associated Papers

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.

Zhang Y et al.

Neuropsychiatric Disease and Treatment, 2025

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

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.

Liu YT et al.

Pediatric Neurology, 2007

[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

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.

Lira MG et al.

Human Mutation, 2000

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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."