Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.K348N
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PKLR

NM_000298.6:p.K348N

Associated Papers

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.

Hornbeck PV et al.

Nucleic Acids Research, 2019

30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1

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

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 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."