Varaico: Literature-Extracted Genetic Variants

Gene:PLOD1
Variant:p.Q345*
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PLOD1

NM_000302.4:p.Q345*

Associated Papers

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.

Scietti L et al.

Nature Communications, 2018

30089812 (PubMed )
Supplement: 41467_2018_5631_MOESM1_ESM.pdf

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Rohrbach M et al.

Orphanet Journal of Rare Diseases, 2011

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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."