Article

A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20

2026-02-12

Abstract excerpt

<h4>Background: </h4> The contribution of intronic variants to the etiology of Mendelian diseases is still underrecognized, impacting the diagnostic yield. Whole genome sequencing (WGS) detects intronic variants, but beside canonical splice-sites, intronic variants are frequently excluded from the interpretation step or are classified as variants of uncertain significance (VUS). In fact, assessing their clinical s...

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Literature Corpus work: 18d57b8a-bffc-5c1e-905f-e5644f0a6f2b
DOI: 10.20944/preprints202602.0974.v1

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