Associated Papers
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
Base editing screens map mutations affecting interferon-γ signaling in cancer.
Coelho MA et al.
Cancer Cell, 2023
36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance
Effect of non-synonymous SNP on JAK1 protein structure and subsequent function.
Liza R et al.
Bioinformation, 2019
Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.
Kiel MJ et al.
Nature Communications, 2015
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