Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.P715L
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TPO

NM_001206744.2:p.P715L

Associated Papers

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Besnard C et al.

Clinical Immunology (orlando, Fla.), 2018

Directed mutagenesis in region 713-720 of human thyroperoxidase assigns 713KFPED717 residues as being involved in the B domain of the discontinuous immunodominant region recognized by human autoantibodies.

Bresson D et al.

The Journal of Biological Chemistry, 2004

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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."