Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.V294M
Back to variants list

PKLR

NM_000298.6:p.V294M

Associated Papers

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Gök V et al.

British Journal of Haematology, 2024

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.

Dongerdiye R et al.

Annals of Hematology, 2023

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.

Yozgat AK et al.

The Turkish Journal of Pediatrics, 2022

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.

Kedar PS et al.

International Journal of Hematology, 2019

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."