Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.D426D
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JAK1

NM_002227.4:p.D426D

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

Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

Moffitt AB et al.

The Journal of Experimental Medicine, 2017

28424246 (PubMed )
Supplement: JEM_20160894_TableS1-S10.xlsx › Table_S1._Variants
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