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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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