Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.V276insFs
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PKLR

NM_000298.6:p.V276insFs

Associated Papers

Novel Compound Heterozygous PKLR Mutation Induced Pyruvate Kinase Deficiency With Persistent Pulmonary Hypertension in a Neonate: A Case Report.

Lin S et al.

Frontiers in Cardiovascular Medicine, 2022

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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."