whole exome sequencing of one patient with epilepsy and development delay

Name: whole exome sequencing of one patient with epilepsy and development delay
Creator: Wenjie Chen
Published: 2021-08-31T09:19:06.266Z
Keywords: Clinical Genetics

Chen, Wenjie

doi:10.17632/5d2rrg2rs6.1

whole exome sequencing of one patient with epilepsy and development delay

Published: 31 August 2021| Version 1 | DOI: 10.17632/5d2rrg2rs6.1

Contributor:

Wenjie Chen

Description

clinical testing for patients with epilepsy and development delay. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs) . SNP mutation analysis based WES data revealed the maternal uniparental disomy (1q32.1) unmasked the homozygous variant of CNTN2.

Files

Institutions

Peking University

whole exome sequencing of one patient with epilepsy and development delay

Description

Files

Institutions

Categories

Licence