Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L253_T254insC
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ABCD1

NM_000033.4:p.L253_T254insC

Associated Papers

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.

Fathi M et al.

Molecular Genetics and Metabolism Reports, 2025

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.

Emamalizadeh B et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.

Karimzadeh P et al.

Iranian Journal of Child Neurology, 2016

The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis.

Wang XM et al.

Stem Cell Research & Therapy, 2012

Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.

Sheth H et al.

Neurology India, 0

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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."