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GC c.853C>G ;(p.L285V)
Variant ID: 4-72622610-G-C
NM_000583.3(
GC
):c.853C>G;(p.L285V)
This variant was identified in 2 publications
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: 853C>G
PubMed Link:
30057904
Variant Present in the following documents:
Main text
IJG2018-2361068.pdf
View BVdb publication page
Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.
Plos One
van Bruggen, Rebekah R; Gualtieri, Christian C; Iliescu, Alexandra A; Louicharoen Cheepsunthorn, Chalisa C; Mungkalasut, Punchalee P; Trape, Jean-François JF; Modiano, David D; Sirima, Bienvenu Sodiomon BS; Singhasivanon, Pratap P; Lathrop, Mark M; Sakuntabhai, Anavaj A; Bureau, Jean-François JF; Gros, Philippe P
Publication Date: 2015
Variant appearance in text: GC: 853C>G
PubMed Link:
26658699
Variant Present in the following documents:
pone.0144555.pdf
View BVdb publication page