Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Q177*
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ABCD1

NM_000033.4:p.Q177*

Associated Papers

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

Liu S et al.

Molecular Genetics & Genomic Medicine, 2022

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

van de Stadt SIW et al.

Genes, 2021

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.

van de Beek MC et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Engelen M et al.

Brain : a Journal of Neurology, 2014

[Prenatal molecular diagnosis of four fetuses at high risk for X-linked adrenoleukodystrophy].

Ke LF et al.

Zhonghua Fu Chan Ke Za Zhi, 2008

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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."