Genetic analysis reveals novel splice-site variant influencing factor V deficiency, indicating important clinical implications.
The proband with hereditary factor V deficiency carries compound heterozygous variants, IVS24+3A>T and p.Asp2222Gly, which have led to alterations in clinical phenotype, genotype, and function. The IVS24+3A>T variant in the F5 gene is a novel splice-site variant reported here for the first time.
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Huang et al. (2026) studied this question.
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