Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.R590Q
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ITPKB

NM_002221.4:p.R590Q

Associated Papers

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

Renkema GH et al.

Human Genetics, 2017

28386624 (PubMed )
Supplement: 439_2017_1794_MOESM1_ESM.pdf

RNA sequencing unravels the genetics of refractory/relapsed T-cell acute lymphoblastic leukemia. Prognostic and therapeutic implications.

Gianfelici V et al.

Haematologica, 2016

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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."