Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L160P
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ABCD1

NM_000033.4:p.L160P

Associated Papers

Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.

Chen ZP et al.

Nature Communications, 2022

35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.

Zhang Y et al.

Genes & Diseases, 2021

Adult-onset cerebral X-linked adrenoleukodystrophy presenting as obsessive-compulsive disorder.

Pinto WBVR et al.

Arquivos De Neuro-psiquiatria, 2020

Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report.

Zheng F et al.

Medicine, 2017

Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

Park HJ et al.

Yonsei Medical Journal, 2014

General aspects and neuropathology of X-linked adrenoleukodystrophy.

Ferrer I et al.

Brain Pathology (zurich, Switzerland), 2010

Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.

Sutovský S et al.

Journal of the Neurological Sciences, 2007

Adrenoleukodystrophy--a new mutation identified.

Vachalova I et al.

Bratislavske Lekarske Listy, 2007

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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."