PMC9712176_01
Gene sequencing results of the index patient of Janus kinase 3 (JAK3) deficiency and her parents. Sequencing detected two missense mutations both located in the Janus homology 7 (JH7) domain of the JAK3 gene, as maternal mutation c.331G>A and paternal mutation c.301A>G.
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Subsequent gene sequencing identified two heterozygous missense mutations in the Janus homology 7 (JH7) domain of the JAK3 gene of the patient, each inherited from her parents ( Figure 1 ).