Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V133insFs
Back to variants list

HBA1

NM_000558.5:p.V133insFs

Associated Papers

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.

Solis C et al.

The Journal of Clinical Investigation, 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."