Publications:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: SCN1A: 5019_5024del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.

Frontiers In Molecular Neuroscience

Wang, Jing-Yang JY; Tang, Bin B; Sheng, Wen-Xiang WX; Hua, Li-Dong LD; Zeng, Yang Y; Fan, Cui-Xia CX; Deng, Wei-Yi WY; Gao, Mei-Mei MM; Zhu, Wei-Wen WW; He, Na N; Su, Tao T

Publication Date: 2022

Variant appearance in text: SCN1A: Gly1674_Leu1675del

PubMed Link: 35359575

Variant Present in the following documents:

• Main text
• fnmol-15-828846.pdf

View BVdb publication page