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Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing

2024-04-01

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by a pathogenic variant in the <italic>SLC16A2</italic>gene. Although most reported variants are found in protein-coding regions or adjacent junctions, structural variations (SVs) within non-coding regions have not been previously reported. <bold>Methods: </bold>To investigate two male siblings...

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Literature Corpus work: 92ecabf2-13fd-574e-8c9f-dbb2cb8e4e91
DOI: 10.21203/rs.3.rs-4168168/v1

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