Detection of the genetic basis of a case with a rare disease.

Nanopore sequencing has enabled the detection of the genetic basis of 3 cases with a rare disease (antithrombin deficiency) that did not have a molecular diagnosis.

It involved an insertion of a retrotransposon in the gene implicated in this pathology.

Read more: https://pubmed.ncbi.nlm.nih.gov/35764313/

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