Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.H596Q
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JAK1

NM_002227.4:p.H596Q

Associated Papers

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.

Takeichi T et al.

Frontiers in Immunology, 2021

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a
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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."