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Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site
Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site
2017
Craig D. Platt
Michel J. Massaad
Brittney Cangemi
Birgitta Schmidt
Hasan Al-Dhekri
Raif S. Geha
Keywords:
Biopsy
Phenotype
Genetics
Allele
RNA Splice Sites
RNA splicing
DNA Mutational Analysis
Janus kinase 3
Medicine
Mutation
Correction
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