https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1390924/full
Frontiers | Identification of a novel ANK1 gene variant c.1504-9GA and its mechanism of intron...
Objective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary sphe...
https://pubmed.ncbi.nlm.nih.gov/41050359/
A novel ANK1 frameshift mutation associated with neonatal hereditary spherocytosis: a case report
In neonates presenting with unexplained recurrent anemia, particularly those with a history of neonatal hyperbilirubinemia, HS should be suspected. Due to the...
a novelassociated with