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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKLR

Variant:p.K354del1

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PKLR

NM_000298.6:p.K354del1

hg38:chr1:155294287 ATCT>A

Associated Papers

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.

Maciak K et al.

Blood Cells, Molecules & Diseases, 2024

38581917 (PubMed )

Mutations in pyruvate kinase.

Beutler E et al.

Human Mutation, 1996

8664896 (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."