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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LOX

Variant:p.Q345_G346Splc

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LOX

NM_002317.7:p.Q345_G346Splc

hg38:chr5:122074012 C>T

Associated Papers

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.

Guo F et al.

Human Mutation, 2024

40225944 (PubMed )

Supplement: 9115364.f1.pdf

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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."