Publications:

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Journal Of Inherited Metabolic Disease

Čechová, Anna A; Altassan, Ruqaiah R; Borgel, Delphine D; Bruneel, Arnaud A; Correia, Joana J; Girard, Muriel M; Harroche, Annie A; Kiec-Wilk, Beata B; Mohnike, Klaus K; Pascreau, Tiffany T; Pawliński, Łukasz Ł; Radenkovic, Silvia S; Vuillaumier-Barrot, Sandrine S; Aldamiz-Echevarria, Luis L; Couce, Maria Luz ML; Martins, Esmeralda G EG; Quelhas, Dulce D; Morava, Eva E; de Lonlay, Pascale P; Witters, Peter P; Honzík, Tomáš T

Publication Date: 2020-07

Variant appearance in text: PC: 457G>A

PubMed Link: 32266963

Variant Present in the following documents:

• Main text

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: PC: V153M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 38

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Racial and ethnic disparities in benign gynecologic conditions and associated surgeries.

American Journal Of Obstetrics And Gynecology

Jacoby, Vanessa L VL; Fujimoto, Victor Y VY; Giudice, Linda C LC; Kuppermann, Miriam M; Washington, A Eugene AE

Publication Date: 2010-06

Variant appearance in text: PCB: Val153Met

PubMed Link: 20430357

Variant Present in the following documents:

• Main text

View BVdb publication page