Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.W132*
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ABCD1

NM_000033.4:p.W132*

Associated Papers

Clinical Variation and Neuroimaging Patterns in Monozygotic Twins With Arrested X-Linked Adrenoleukodystrophy: A Case Report.

Leon TA et al.

Cureus, 2025

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

Alfadhel M et al.

Frontiers in Pediatrics, 2021

Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.

Palakuzhiyil SV et al.

World Journal of Biological Chemistry, 2020

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

Kallabi F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

Pereira Fdos S et al.

Plos One, 2012

Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.

Soardi FC et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2010

[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."