Article

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA

2026-01-15

Abstract excerpt

A substantial proportion of individuals with a well-defined monogenic disorder remain without a genetic diagnosis. Low-level mosaic pathogenic variants are increasingly recognised as an underappreciated cause of monogenic disease but are technically challenging to detect, particularly in organ-specific conditions when affected tissue is inaccessible. We systematically investigated low-level mosaic variants in indi...

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Literature Corpus work: 9e8dfbfe-919b-5ed4-8cc2-0fe7017399eb
DOI: 10.64898/2026.01.13.26344002

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