Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.H283R
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ABCD1

NM_000033.4:p.H283R

Associated Papers

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

Zhang Y et al.

Neuropsychiatric Disease and Treatment, 2025

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf

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

Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.

Wang Z et al.

Plos One, 2013

Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.

Lan F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

[A novel missense mutation resulting in X-linked adrenoleukodystrophy in female heterozygotes of a Chinese family].

Xie HH et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010

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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."