Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

A substantial portion of Mendelian disease patients suffers from genetic variants that are inherited in a recessive manner. A precise understanding of pathogenic recessive variants in a population would assist in pre-screening births of such patients. However, a systematic understanding of the contr...

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Detalles Bibliográficos
Autores principales: Lee, Youngha, Park, Soojin, Lee, Jin Sook, Kim, Soo Yeon, Cho, Jaeso, Yoo, Yongjin, Lee, Sangmoon, Yoo, Taekyeong, Lee, Moses, Seo, Jieun, Lee, Jeongeun, Kneissl, Jana, Lee, Jean, Jeon, Hyoungseok, Jeon, Eun Young, Hong, Sung Eun, Kim, Eunha, Kim, Hyuna, Kim, Woo Joong, Kim, Jon Soo, Ko, Jung Min, Cho, Anna, Lim, Byung Chan, Kim, Won Seop, Choi, Murim, Chae, Jong-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6989631/
https://www.ncbi.nlm.nih.gov/pubmed/31996704
http://dx.doi.org/10.1038/s41598-020-58101-8

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