Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.I24S
Back to variants list

SPTA1

NM_003126.4:p.I24S

Associated Papers

Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.

Gaetani M et al.

Blood, 2008

The molecular basis of hereditary red cell membrane disorders.

Delaunay J

Blood Reviews, 2007

Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.

Parquet N et al.

Blood, 1994

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."