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: 2080A>C; Thr694Pro

PubMed Link: 34926337

Variant Present in the following documents:

• Main text
• fped-09-731716.pdf

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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: T694P

PubMed Link: 31557950

Variant Present in the following documents:

• Main text
• nutrients-11-02290.pdf

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Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

Journal Of Pediatric Gastroenterology And Nutrition

Haberman, Yael Y; Di Segni, Ayelet A; Loberman-Nachum, Nurit N; Barel, Ortal O; Kunik, Vered V; Eyal, Eran E; Kol, Nitzan N; Hout-Siloni, Goni G; Kochavi, Brigitte B; Avivi, Camila C; Schvimer, Michael M; Rechavi, Gideon G; Anikster, Yair Y; Barshack, Iris I; Weiss, Batia B

Publication Date: 2017-05

Variant appearance in text: SI: T694P

PubMed Link: 27749612

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SI: T694P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SI: T694P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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