Varaico: Literature-Extracted Genetic Variants

Gene:PLOD1
Variant:p.Q49*
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PLOD1

NM_000302.4:p.Q49*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Quade A et al.

Pediatric Neurology, 2017

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

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

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.

Yeowell HN et al.

European Journal of Dermatology : Ejd, 0

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