Varaico: Literature-Extracted Genetic Variants

Gene:PTPN22
Variant:p.R748G
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PTPN22

NM_015967.8:p.R748G

Associated Papers

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Bertucci F et al.

Molecular Oncology, 2020

31854063 (PubMed )
Supplement: MOL2-14-504-s010.xlsx › TableS3

Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes.

Ge Y et al.

Diabetes, 2016

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."