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Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia [version 2; referees: 2 approved]
Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma and 7 more
F1000Research · 2017
doi:10.12688/f1000research.9472.2
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