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SI c.2791T>A ;(p.W931R)
Variant ID: 3-164748601-A-T
NM_001041.3(
SI
):c.2791T>A;(p.W931R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.
Frontiers In Pediatrics
Zhou, Jianli J; Zhao, Yuzhen Y; Qian, Xia X; Cheng, Yongwei Y; Cai, Huabo H; Chen, Moxian M; Zhou, Shaoming S
Publication Date: 2021
Variant appearance in text: SI: Trp931Arg
PubMed Link:
34926337
Variant Present in the following documents:
Main text
fped-09-731716.pdf
View BVdb publication page
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
Nutrients
Husein, Diab M DM; Wanes, Dalanda D; Marten, Lara M LM; Zimmer, Klaus-Peter KP; Naim, Hassan Y HY
Publication Date: 2019-09-25
Variant appearance in text: SI: W931R; rs914403158
PubMed Link:
31557950
Variant Present in the following documents:
Main text
nutrients-11-02290.pdf
View BVdb publication page
Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.
Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16
Variant appearance in text: SI: W931R
PubMed Link:
30992440
Variant Present in the following documents:
41467_2019_9762_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page