Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.L228I
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UGT1A8

NM_019076.5:p.L228I

Associated Papers

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Blue EE et al.

Birth Defects Research, 2024

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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."