Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G594Splc
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ABCD1

NM_000033.4:p.G594Splc

Associated Papers

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Khalfallah R et al.

Annales D'endocrinologie, 2025

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Zhang T et al.

Neuropsychiatric Disease and Treatment, 2021

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

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.

Karkar A et al.

Bmc Neurology, 2015

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Kallabi F et al.

Neuroscience Research, 2015

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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."