Article

A Novel AR Splice-Site Variant Causing Complete Androgen Insensitivity Syndrome: Transcript Confirmation and Lessons for Splice Prediction

2026-06-30

Abstract excerpt

<title>Abstract</title> <p>Canonical splice-site variants are an under-recognized cause of androgen insensitivity syndrome (AIS), but transcript-level consequences have been experimentally confirmed for only a minority of androgen receptor (AR) variants. We report a 46,XY individual with complete androgen insensitivity syndrome (CAIS) carrying a novel canonical acceptor variant in AR, c.2319-1G>T. RT-PCR and cDNA...

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Literature Corpus work: a74b882d-cb87-5857-b694-bf93bc9ae0ea
DOI: 10.21203/rs.3.rs-10102502/v1

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