Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R163P
Back to variants list

ABCD1

NM_000033.4:p.R163P

Associated Papers

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

Ogaki K et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.

Matsumoto T et al.

Journal of Human Genetics, 2003

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."