Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R887*
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SPTA1

NM_003126.4:p.R887*

Associated Papers

Loss of Function SPTA1 Variants Causes Neonatal Liver Failure and Fetal Anemia.

Brewin J et al.

American Journal of Hematology, 2025

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.

Cheng J et al.

Frontiers in Pediatrics, 2025

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Svidnicki MCCM et al.

Annals of Hematology, 2020

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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."