Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L516L
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ABCD1

NM_000033.4:p.L516L

Associated Papers

Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.

Zhang L et al.

Psychiatric Genetics, 2021

Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.

Valadares ER et al.

Genetics and Molecular Research : Gmr, 2011

Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.

Chiu HC et al.

Pediatric Neurology, 2006

ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.

Pan H et al.

Pediatric Neurology, 2005

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

Coll MJ et al.

Clinical Genetics, 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

[Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].

Xiong H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L et al.

Human Mutation, 2001

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

Smith KD et al.

Neurochemical Research, 1999

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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."