Varaico: Literature-Extracted Genetic Variants

Gene:PTPN22
Variant:p.H189L
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PTPN22

NM_015967.8:p.H189L

Associated Papers

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.

Aslaksen S et al.

Journal of Translational Autoimmunity, 2019

32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.

Skinningsrud B et al.

European Journal of Human Genetics : Ejhg, 2008

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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."