Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.E133_C134Splc
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HEATR3

NM_182922.4:p.E133_C134Splc

Associated Papers

Animal models of Diamond-Blackfan anemia: updates and challenges.

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf

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

O'Donohue MF et al.

Blood, 2022

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