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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKLR

Variant:p.D339insFs

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PKLR

NM_000298.6:p.D339insFs

hg38:chr1:155294335 T>TC

Associated Papers

Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure.

Hsu YH et al.

Children (basel, Switzerland), 2025

41300657 (PubMed )

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