Varaico: Literature-Extracted Genetic Variants

Gene:PLOD1
Variant:p.L60insFs
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PLOD1

NM_000302.4:p.L60insFs

Associated Papers

Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.

Yeowell HN et al.

Human Mutation, 2000

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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."