Article

Systematic Reclassification of FLNB Variants of Uncertain Significance in Larsen Syndrome

2026-05-07

Abstract excerpt

<title>Abstract</title> <p> <bold>Objectives</bold> The aimed to re-evaluate eighteen (18) Variants of Uncertain Significance (VUS) in the <italic>FLNB</italic> gene to test the effectiveness of the ACMG/AMP guidelines and assess their clinical implications in probands with Larsen Syndrome (LRS, OMIM 150250). <bold>Methods</bold> The methodology followed the steps listed in the ACMG/AMP guidelines, selectin...

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Literature Corpus work: 674452b8-e22f-566c-8b41-08331b0adcbd
DOI: 10.21203/rs.3.rs-8703137/v1

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