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Analysis of trio test in neurodevelopmental disorders

BackgroundTrio test has been widely used for diagnosis of various hereditary disorders. We aimed to investigate the contribution of trio test in genetically diagnosing neurodevelopmental disorders (NDD).MethodsWe retrospectively reviewed 2,059 NDD cases with genetic test results. The trio test was c...

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Principais autores: Se Hee Kim, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Seung-Tae Lee, Jong Rak Choi, Saeam Shin, Hoon-Chul Kang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-12-01
coleção:Frontiers in Pediatrics
Assuntos:
neurodevelopmental disorder
genetic diagnosis
next-generation sequencing
trio test
de novo variant
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fped.2022.1073083/full
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