Publications:

Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.

Frontiers In Pediatrics

Sun, Dan D; Liu, Yan Y; Cai, Wei W; Ma, Jiehui J; Ni, Kun K; Chen, Ming M; Wang, Cheng C; Liu, Yongchu Y; Zhu, Yuanyuan Y; Liu, Zhisheng Z; Zhu, Feng F

Publication Date: 2021

Variant appearance in text: SCN1A: 3934dupA; I1312fs

PubMed Link: 34055682

Variant Present in the following documents:

• Main text
• fped-09-635703.pdf

View BVdb publication page