Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.P318_E319insFs
Back to variants list

PGK1

NM_000291.4:p.P318_E319insFs

Associated Papers

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

Flanagan JM et al.

British Journal of Haematology, 2006

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."