TSC2 c.4753_4763del ;(p.K1585Afs*14)

Variant ID: 16-2136284-GAAGGACTGCCA-G

NM_000548.3(TSC2):c.4753_4763del;(p.K1585Afs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 4753_4763del; Lys1585fs
PubMed Link: 30763456
Variant Present in the following documents:
  • Main text
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