Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: SI: V717D; rs188320908

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Nutrients

Husein, Diab M DM; Rizk, Sandra S; Naim, Hassan Y HY

Publication Date: 2020-12-22

Variant appearance in text: SI: V717D

PubMed Link: 33375084

Variant Present in the following documents:

• Main text
• nutrients-13-00009.pdf

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Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association

Garcia-Etxebarria, Koldo K; Zheng, Tenghao T; Bonfiglio, Ferdinando F; Bujanda, Luis L; Dlugosz, Aldona A; Lindberg, Greger G; Schmidt, Peter T PT; Karling, Pontus P; Ohlsson, Bodil B; Simren, Magnus M; Walter, Susanna S; Nardone, Gerardo G; Cuomo, Rosario R; Usai-Satta, Paolo P; Galeazzi, Francesca F; Neri, Matteo M; Portincasa, Piero P; Bellini, Massimo M; Barbara, Giovanni G; Jonkers, Daisy D; Eswaran, Shanti S; Chey, William D WD; Kashyap, Purna P; Chang, Lin L; Mayer, Emeran A EA; Wouters, Mira M MM; Boeckxstaens, Guy G; Camilleri, Michael M; Franke, Andre A; D'Amato, Mauro M

Publication Date: 2018-10

Variant appearance in text: SI: Val717Asp; rs188320908

PubMed Link: 29408290

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SI: 2150T>A; V717D

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page