Image 1_Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms.tif

Image 1_Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms.tif

Background<p>The CHD2 gene is one of the most common causative genes of developmental and epileptic encephalopathy (DEE). With the advent of high-throughput sequencing, identifying CHD2 variants has increased, necessitating evaluation of the gene-specific performance of widely used tools, as g...

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Hlavní autor: Yu-Jie Gu (20963948) (author)
Další autoři: Peng-Yu Wang (14557018) (author), Qing-Qing Fu (22686467) (author), Jia-He Lai (22686470) (author), Xin Chen (14149) (author), Xiang-Hong Liu (572285) (author), Bao-Zhu Guan (10876245) (author)
Vydáno: 2025
Témata:
Neurology and Neuromuscular Diseases
missense variant
in silico tools
CHD2
MutPred2
AlphaMissense
developmental and epileptic encephalopathy
optimizing genetic diagnosis
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