Publications:

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences

Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E

Publication Date: 2019-10-03

Variant appearance in text: TSC2: Leu361Val

PubMed Link: 31623367

Variant Present in the following documents:

• Main text
• brainsci-09-00265.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TSC2: 1081C>G; L361V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Human Mutation

Zhou, Wei-Zhen WZ; Zhang, Jie J; Li, Ziyi Z; Lin, Xiaojing X; Li, Jiarui J; Wang, Sheng S; Yang, Changhong C; Wu, Qixi Q; Ye, Adam Yongxin AY; Wang, Meng M; Wang, Dandan D; Pu, Tad Zhengzhang TZ; Wu, Yu-Yu YY; Wei, Liping L

Publication Date: 2019-06

Variant appearance in text: TSC2: 1081C>G; Leu361Val

PubMed Link: 30763456

Variant Present in the following documents:

• Main text

View BVdb publication page