Article

Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks

2026-05-14

Abstract excerpt

<title>Abstract</title> <p> Intragenic duplications can lead to loss-of-function by disrupting the native gene sequence, however, understanding the precise structural conformation is important for accurate predictions of functional outcomes. Here, we describe an Amish kindred with a positive history of Galloway-Mowat and pontocerebellar hypoplasia syndromes. The youngest child also harboured a homozygous intrage...

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Literature Corpus work: 35f2f622-1e3a-5562-b1ea-0feafd0cb748
DOI: 10.21203/rs.3.rs-9628820/v1

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