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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLOD1

Variant:p.L309_H312del0

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PLOD1

NM_000302.4:p.L309_H312del0

hg38:chr1:11958589 AGCGGCTCCT>A

Associated Papers

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.

Shin YL et al.

Journal of Korean Medical Science, 2020

32174067 (PubMed )

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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."