Varaico: Literature-Extracted Genetic Variants

Gene:MAFK
Variant:p.R56Q
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MAFK

NM_002360.4:p.R56Q

Associated Papers

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

Gazda HT et al.

British Journal of Haematology, 2004

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

Gazda H et al.

Blood, 2001

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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."