Article

Whole Genome Sequencing identifies novel structural variant in a large Indian family affected with X - linked agammaglobulinemia

2020-10-06

Abstract excerpt

<h4>Background</h4> X - linked agammaglobulinemia (XLA, OMIM #300755) is a primary immunodeficiency disorder caused by pathogenic variations in the BTK gene, characterized by failure of development and maturation of B lymphocytes. The estimated prevalence worldwide is 1 in 190,000 male births. Recently, genome sequencing has been widely used in difficult to diagnose and familial cases. We report a large Indian fam...

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Literature Corpus work: 93410f2f-17a1-51b3-9608-6625c028baa7
DOI: 10.1101/2020.10.05.20200949

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