A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

ConclusionThis variant is novel and has not been found in any databases. We propose that this splice variant explains the spherocytosis phenotype observed in this large family.

Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Taina T. Nieminen, Sandya Liyanarachchi, Daniel F. Comiskey, Yanqiang Wang, Wei Li, Isabella V. Hendrickson, Pamela Brock, Albert Chapelle, Huiling He Tags: CLINICAL REPORT Source Type: research