Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.L485L
Back to variants list

HK1

NM_033500.2:p.L485L

Associated Papers

A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.

Jamwal M et al.

British Journal of Haematology, 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."