Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals

Bone dysplasias are a group of rare hereditary diseases, with up to 436 disease types. Perinatal diagnosis is clinically important for adequate personalized management and counseling. There are no reports focused on pathogenic variants of bone dysplasias in the general population. In this study, we...

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Detalles Bibliográficos
Autores principales: Nagaoka, Shinichi, Yamaguchi-Kabata, Yumi, Shiga, Naomi, Tachibana, Masahito, Yasuda, Jun, Tadaka, Shu, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Murotsuki, Jun, Yamamoto, Masayuki, Yaegashi, Nobuo, Sugawara, Junichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810679/
https://www.ncbi.nlm.nih.gov/pubmed/33452237
http://dx.doi.org/10.1038/s41439-020-00133-7

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