Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R182P
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ABCD1

NM_000033.4:p.R182P

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

Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.

Liu S et al.

Molecular Genetics & Genomic Medicine, 2022

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.

Dong B et al.

International Journal of Endocrinology, 2022

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

[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

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Smith KD et al.

Neurochemical Research, 1999

Mutations in the adrenoleukodystrophy gene.

Dodd A et al.

Human Mutation, 1997

Adrenoleukodystrophy.

Moser HW

Current Opinion in Neurology, 1995

Mutational analysis of patients with X-linked adrenoleukodystrophy.

Kok F et al.

Human Mutation, 1995

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