Publications:

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: SCN1A: 2825_2826insT

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.pdf

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Data on mutations and Clinical features in SCN1A or SCN2A gene.

Data In Brief

Kong, Yanting Y; Yan, Kai K; Hu, Liyuan L; Wang, Mingbang M; Dong, Xinran X; Lu, Yulan Y; Wu, Bingbing B; Wang, Huijun H; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-02

Variant appearance in text: SCN1A: 2825_2826insT

PubMed Link: 30619928

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page