Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.D331N
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PKLR

NM_000298.6:p.D331N

Associated Papers

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.

Gupta N et al.

Prenatal Diagnosis, 2007

Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.

Kugler W et al.

Human Mutation, 2000

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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."