Varaico: Literature-Extracted Genetic Variants

Gene:HPD
Variant:p.T219A
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HPD

NM_002150.3:p.T219A

Associated Papers

HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage.

Xie Y et al.

Nature Communications, 2019

31537781 (PubMed )
Supplement: 41467_2019_12011_MOESM1_ESM.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."