Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.D405E
Back to variants list

ALAS2

NM_000032.5:p.D405E

Associated Papers

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.

Cazzola M et al.

Blood, 2002

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.

Bottomley SS et al.

Journal of Bioenergetics and Biomembranes, 1995

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."