Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R41W
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SPTA1

NM_003126.4:p.R41W

Associated Papers

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Park J et al.

Clinical Genetics, 2016

Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis.

Han E et al.

Annals of Laboratory Medicine, 2013

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

Gaetani M et al.

Blood, 2008

Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain.

Zhang Z et al.

Blood, 2001

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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."