PC c.1067_1068insAGACG ;(p.S356Rfs*90)

Variant ID: 11-66633775-G-GCGTCT

NM_001040716.1(PC):c.1067_1068insAGACG;(p.S356Rfs*90)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent variants.

Experimental And Therapeutic Medicine
Zou, Dongfang D; Wang, Lin L; Wen, Feiqiu F; Xiao, Hongdou H; Duan, Jing J; Zhang, Tongda T; Yin, Zhenzhen Z; Dong, Qiwen Q; Guo, Jian J; Liao, Jianxiang J
Publication Date: 2020-12

Variant appearance in text: PC: 1067_1068insAGACG
PubMed Link: 33199988
Variant Present in the following documents:
  • etm-20-06-09393.pdf
View BVdb publication page