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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKLR

Variant:p.G341S

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PKLR

NM_000298.6:p.G341S

hg38:chr1:155294330 C>T

Associated Papers

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.

Milanesio B et al.

Clinical Biochemistry, 2021

33631127 (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."