Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population

OBJECTIVE: This study aimed to determine the frequency of pathogenic NOTCH3 variants among Koreans. METHODS: In this cross-sectional study, we queried for pathogenic NOTCH3 variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea...

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Detalles Bibliográficos
Autores principales: Kang, Chul-Hoo, Kim, Young Mee, Kim, Yang-Ji, Hong, Su-Jeong, Kim, Do Yoon, Woo, Hyun Goo, Kim, Young Ree, Kim, Joong-Goo, Lee, Jung Seok, Kong, Mi Hee, Kim, Hyeon Ju, Choi, Jay Chol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Clinical/Scientific Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8650050/
https://www.ncbi.nlm.nih.gov/pubmed/34881353
http://dx.doi.org/10.1212/NXG.0000000000000639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8650050/
https://www.ncbi.nlm.nih.gov/pubmed/34881353
http://dx.doi.org/10.1212/NXG.0000000000000639

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