PMC10183671_01
Nucleotide substitution (c.1685G>A, p.R562Q) located in the tyrosine kinase domain of Bruton's tyrosine kinase (BTK) gene.
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Genetic analysis revealed a heterozygous de novo variant in the BTK gene (c.1685G>A, p.R562Q) considered probably pathogenic, not previously described and not present in the patient's parents ( Figure 1 ).