Varaico: Literature-Extracted Genetic Variants

Gene:PLOD3
Variant:p.L406del1
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PLOD3

NM_001084.5:p.L406del1

Associated Papers

Cerebral small vessel disease caused by PLOD3 mutation: Expanding the phenotypic spectrum of lysyl hydroxylase-3 deficiency.

Zhou J et al.

Pediatric Investigation, 2022

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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."