Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.A151_A152del1
Back to variants list

HMBS

NM_000190.4:p.A151_A152del1

Associated Papers

Acute intermittent porphyria in Argentina: an update.

Cerbino GN et al.

Biomed Research International, 2015

A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.

Siervi AD et al.

Human Mutation, 2000

Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).

De Siervi A et al.

Human Mutation, 1999

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."