Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense

ABSTRACT Background Prenatal diagnosis of X‐linked hydrocephalus caused by variants in the L1CAM gene is often complicated by the identification of Variants of Uncertain Significance (VUSs). This study showcases an accelerated diagnostic workflow using artificial intelligence (AI) to rapidly interpr...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Zhihui Wang, Xuna Shen, Chenyang Xu, Rongyue Wang, Chendi Teng, Yanbin He, Weiyan Wu, Xutao Hong
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2025-12-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	AlphaFold AlphaMissense exome sequencing hydrocephalus L1CAM prenatal diagnosis
Acesso em linha:	https://doi.org/10.1002/mgg3.70169
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!