Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A300P
Back to variants list

PKLR

NM_000298.6:p.A300P

Associated Papers

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.

Fawaz N et al.

Clinical Case Reports, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."