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Homo sapiens pyruvate kinase isoform 1 (PKLR) gene, PKLR-2 allele, partial cds.

PopSet: 1611769117

GenBank FASTA

Study Details

Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.

Bagla,S., Bhambhani,K., Gadgeel,M., Buck,S., Jin,J.P. and Ravindranath,Y.

(04-04-2019) Haematologica

PMID:
30948487
CitationFull text

Sequences in this data set

  • MK757504.1Homo sapiens pyruvate kinase isoform 1 (PKLR) gene, PKLR-1 allele, partial cds
  • MK757503.1Homo sapiens pyruvate kinase isoform 1 (PKLR) gene, PKLR-2 allele, exon 3 and partial cds
  • MK757502.1Homo sapiens pyruvate kinase isoform 1 (PKLR) gene, PKLR-2 allele, partial cds

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  • Protein
    Protein component of population set
  • PubMed
    PubMed articles cited by population set
  • Taxonomy
    Taxonomy sequences associated with popset record
  • Free in PMC
    Free full text articles in PMC
  • Nucleotide
    Nucleotide component of population set

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