Varaico: Literature-Extracted Genetic Variants

Gene:IREB2
Variant:p.G32A
Back to variants list

IREB2

NM_004136.4:p.G32A

Associated Papers

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.

Girelli D et al.

British Journal of Haematology, 2001

Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G.

Cremonesi L et al.

Clinical Chemistry, 2001

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."