Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R45S
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SPTA1

NM_003126.4:p.R45S

Associated Papers

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Important residue (G46) in erythroid spectrin tetramer formation.

Kang J et al.

Cellular & Molecular Biology Letters, 2010

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."