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GC c.302_303insG ;(p.F102Ifs*9)
Variant ID: 4-72631319-T-TC
NM_000583.3(
GC
):c.302_303insG;(p.F102Ifs*9)
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:
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
International Journal Of Genomics
Chen, Li L; Yan, Huifang H; Cao, Binbin B; Wu, Ye Y; Gu, Qiang Q; Xiao, Jiangxi J; Yang, Yanling Y; Yang, Huixia H; Shi, Zhen Z; Yang, Zhixian Z; Pan, Hong H; Chang, Xingzhi X; Chen, Junya J; Sun, Yu Y; Zhang, Yuehua Y; Wu, Xiru X; Jiang, Yuwu Y; Wang, Jingmin J
Publication Date: 2018
Variant appearance in text: GC: 302_303insG
PubMed Link:
30057904
Variant Present in the following documents:
Main text
IJG2018-2361068.pdf
View BVdb publication page