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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP1B1

Variant:p.R348Splc

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CYP1B1

NM_000104.4:p.R348Splc

hg38:chr2:38071313 G>A

Associated Papers

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Elksne E et al.

Biomedicines, 2025

40427049 (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."