Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R359H
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PKLR

NM_000298.6:p.R359H

Associated Papers

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

Cord blood transplantation in a young child with pyruvate kinase deficiency.

Akiyoshi K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.

Warang P et al.

Blood Cells, Molecules & Diseases, 2013

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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."