Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.G168D
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UROD

NM_000374.5:p.G168D

Associated Papers

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

López-Garrido MP et al.

Clinical Genetics, 2009

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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."