Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.R642S
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HEATR3

NM_182922.4:p.R642S

Associated Papers

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.

O'Donohue MF et al.

Blood, 2022

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

Hui KY et al.

Science Translational Medicine, 2018

Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.

Zhang W et al.

Genes and Immunity, 0

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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."