Article

Non-coding variants are a rare cause of recessive developmental disorders<i>in trans</i>with coding variants

2023-06-29

Abstract excerpt

<h4>Purpose</h4> Identifying pathogenic non-coding variants in individuals with developmental disorders (DD) is challenging due to the large search space. It is common to find a single protein-altering variant in a recessive gene in DD patients, but the prevalence of pathogenic non-coding ;second hits; in trans with these is unknown. <h4>Methods</h4> In 4,073 genetically undiagnosed rare disease trio probands from...

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Literature Corpus work: 3fb7faad-554f-59a7-b535-3998ec0c6e8f
DOI: 10.1101/2023.06.23.23291805

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