Publications:

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.

International Journal Of Molecular Sciences

Iarossi, Giancarlo G; Marino, Valerio V; Maltese, Paolo Enrico PE; Colombo, Leonardo L; D'Esposito, Fabiana F; Manara, Elena E; Dhuli, Kristjana K; Modarelli, Antonio Mattia AM; Cennamo, Gilda G; Magli, Adriano A; Dell'Orco, Daniele D; Bertelli, Matteo M

Publication Date: 2020-12-31

Variant appearance in text: ABCA4: Glu189*

PubMed Link: 33396523

Variant Present in the following documents:

• Main text
• ijms-22-00381.pdf

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Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine

Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F

Publication Date: 2016-12

Variant appearance in text: ABCA4: Glu189*

PubMed Link: 28027327

Variant Present in the following documents:

• pmed.1002201.s012.xlsx, sheet 1

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Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

American Journal Of Human Genetics

Roosing, Susanne S; Rohrschneider, Klaus K; Beryozkin, Avigail A; Sharon, Dror D; Weisschuh, Nicole N; Staller, Jennifer J; Kohl, Susanne S; Zelinger, Lina L; Peters, Theo A TA; Neveling, Kornelia K; Strom, Tim M TM; , ; van den Born, L Ingeborgh LI; Hoyng, Carel B CB; Klaver, Caroline C W CC; Roepman, Ronald R; Wissinger, Bernd B; Banin, Eyal E; Cremers, Frans P M FP; den Hollander, Anneke I AI

Publication Date: 2013-07-11

Variant appearance in text: ABCA4: Glu189*

PubMed Link: 23746546

Variant Present in the following documents:

• Main text

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