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Article

Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP.

Journal of clinical immunology - 1 Apr 2020

Hosking Laine M, Quach Alex, Slade Charlotte A, Galea Melanie A, Richards Stephanie, Choo Sharon, Ferrante Antonio

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Share to Diagnostic Errors
Share to False Negative Reactions
Share to Gain of Function Mutation
Share to Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Introns

Share to Pedigree

Share to STAT1 Transcription Factor

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PMID: 32146551
DOI: 10.1007/s10875-020-00768-9

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