Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.Q71*
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UROD

NM_000374.5:p.Q71*

Associated Papers

Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).

Phillips JD et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2007

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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."