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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...

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Principais autores: Zhihui Wang, Xuna Shen, Chenyang Xu, Rongyue Wang, Chendi Teng, Yanbin He, Weiyan Wu, Xutao Hong
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2025-12-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
AlphaFold
AlphaMissense
exome sequencing
hydrocephalus
L1CAM
prenatal diagnosis
Online adgang:https://doi.org/10.1002/mgg3.70169
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