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SI c.2222T>C ;(p.L741P)
Variant ID: 3-164757697-A-G
NM_001041.3(
SI
):c.2222T>C;(p.L741P)
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:
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: Leu741Pro
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: L741P; rs1167931116
PubMed Link:
31557950
Variant Present in the following documents:
Main text
nutrients-11-02290.pdf
View BVdb publication page