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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKLR

Variant:p.R488Q

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PKLR

NM_000298.6:p.R488Q

hg38:chr1:155291911 C>T

Associated Papers

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

33054047 (PubMed )

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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."