Varaico: Literature-Extracted Genetic Variants

Gene:RBPJL
Variant:p.T280M
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RBPJL

NM_014276.4:p.T280M

Associated Papers

The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.

Huerta-Chagoya A et al.

Diabetologia, 2023

37148359 (PubMed )
Supplement: 125_2023_5912_MOESM1_ESM.pdf

Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex.

Nair AK et al.

European Journal of Human Genetics : Ejhg, 2018

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