Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R268Q
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SPTA1

NM_003126.4:p.R268Q

Associated Papers

Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.

Gallagher PG et al.

The Journal of Clinical Investigation, 2019

The Spectrum of SPTA1-Associated Hereditary Spherocytosis.

Chonat S et al.

Frontiers in Physiology, 2019

31333484 (PubMed )
Supplement: Data_Sheet_1.PDF

Diastereoselectivity of the P2Y11 nucleotide receptor: mutational analysis.

Ecke D et al.

British Journal of Pharmacology, 2008

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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."