Varaico: Literature-Extracted Genetic Variants

Gene:PLOD1
Variant:p.C680S
Back to variants list

PLOD1

NM_000302.4:p.C680S

Associated Papers

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

Yeowell HN et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2000

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."