LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

Hemoglobinopathies are the most common monogenic disorders worldwide. Substantial effort has been made to establish databases to record complete mutation spectra causing or modifying this group of diseases. We present a variant database which couples an online auxiliary diagnosis and at‐risk assessm...

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Detalles Bibliográficos
Autores principales: Zhang, Li, Zhang, Qianqian, Tang, Yaohua, Cong, Peikuan, Ye, Yuhua, Chen, Shiping, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Zou, Jie, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Zhou, Yuehong, Ding, Hongmei, Li, Xiarong, Chen, Dianyu, Zhong, Jianmei, Shang, Xuan, Liu, Xuanzhu, Qi, Ming, Xu, Xiangmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899610/
https://www.ncbi.nlm.nih.gov/pubmed/31286593
http://dx.doi.org/10.1002/humu.23863

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