Varaico: Literature-Extracted Genetic Variants

Gene:PLOD1
Variant:p.Q490_D491Splc
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PLOD1

NM_000302.4:p.Q490_D491Splc

Associated Papers

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."