Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.W242*
Back to variants list

ABCD1

NM_000033.4:p.W242*

Associated Papers

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.

Dong B et al.

International Journal of Endocrinology, 2022

[Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].

Wang AH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

[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

Mutational analysis of X-linked adrenoleukodystrophy gene.

Takano H et al.

Cell Biochemistry and Biophysics, 2000

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Smith KD et al.

Neurochemical Research, 1999

Mutations in the adrenoleukodystrophy gene.

Dodd A et al.

Human Mutation, 1997

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

Krasemann EW et al.

Human Genetics, 1996

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Wang Y et al.

Molecular Genetics and Metabolism, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."