Varaico: Literature-Extracted Genetic Variants

Gene:PPM1K
Variant:p.T296_D298delFs
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PPM1K

NM_152542.5:p.T296_D298delFs

Associated Papers

Phenylbutyrate therapy for maple syrup urine disease.

Brunetti-Pierri N et al.

Human Molecular Genetics, 2011

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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."