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Identifies a novel genetic variant associated with weak B phenotype, suggesting pathways for further genetic research.
The authors have disclosed no conflicts of interest. The data that support the findings of this study are openly available in NCBI at https://www.ncbi.nlm.nih.gov/nuccore/PV953302, reference number PV953302. Fig. S1. Sequence analysis of exon 3 in the ABO gene (proband). Sanger sequencing in both forward (Figure S1A) and reverse (Figure S1B) directions confirmed the presence of the novel heterozygous variant c.150dup. The duplication site of nucleotide G is indicated by a black arrow. Fig. S2. Haplotype confirmation by SMRT sequencing. Long-read sequencing of the proband's ABO gene confirms that the c.105dup variant resides on the ABO*B.01 allele. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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Fan et al. (2026) studied this question.
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