Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VWA1

Variant:p.M1R

Back to variants list

VWA1

NM_022834.5:p.M1R

hg38:chr1:1435750 T>G

Associated Papers

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Pagnamenta AT et al.

Brain : a Journal of Neurology, 2021

33559681 (PubMed )

Supplement: awaa420_supplementary_data.zip › brain-2020-01257-File008.pdf

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."