Publications:

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: NPC1: 409A>G; T137A

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Iranian Journal Of Child Neurology

Hashemian, Somayyeh S; Eshraghi, Peyman P; Dilaver, Nafi N; Galehdari, Hamid H; Shalbafan, Bita B; Vakili, Rahim R; Ghaemi, Nosrat N; Ahangari, Najmeh N; Rezazadeh Varaghchi, Jamileh J; Zeighami, Jawaher J; Sedaghat, Alireza A; Aminzadeh, Majid M; Hamid, Mohammad M; Saberi, Alihossein A; Ashtari, Fereshteh F; Ghayoor Karimiani, Ehsan E; Shariati, Gholamreza G

Publication Date: 2019

Variant appearance in text: NPC1: 409A>G; Thr137Ala

PubMed Link: 31037088

Variant Present in the following documents:

• Main text
• ijcn-13-155.pdf

View BVdb publication page