Genetic & Genomic MedicinePLoS ONEPeer-reviewed
Whole Genome Sequencing identifies novel structural variant in a large Indian family affected with X - linked agammaglobulinemia
Abhinav K. Jain, Geeta Madathil Govindaraj, Athulya Edavazhippurath…·Vinod Scaria
The paper identifies a novel 5,296 bp deletion in the BTK gene in an Indian family with X-linked agammaglobulinemia through whole genome sequencing and carrier screening.
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