Article

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and<i>in silico</i>methods

2023-07-06

Abstract excerpt

<h4>Background/Objectives</h4> Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to ACMG criterion PVS1). However, the exact nature and predictability of splicing effects of unselected rare CSSVs in blood-expressed genes is poorly understood. <h4>Methods</h4> A total of 184 rare CSSVs in unselected blood-expre...

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Literature Corpus work: cecf860c-bc65-5bd3-99cd-cc29c4cf667f
DOI: 10.1101/2023.06.29.23292012

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