Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GCK: Y289C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Scientific Reports

Šimčíková, Daniela D; Kocková, Lucie L; Vackářová, Kateřina K; Těšínský, Miroslav M; Heneberg, Petr P

Publication Date: 2017-08-25

Variant appearance in text: GCK: Y289C

PubMed Link: 28842611

Variant Present in the following documents:

• 41598_2017_9810_MOESM1_ESM.pdf

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Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

Theranostics

George, Doss C Priya DC; Chakraborty, Chiranjib C; Haneef, S A Syed SA; Nagasundaram, Nagarajan N; Chen, Luonan L; Zhu, Hailong H

Publication Date: 2014

Variant appearance in text: GCK: Y289C

PubMed Link: 24578721

Variant Present in the following documents:

• thnov04p0366s1.pdf

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Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.

Plos One

Capuano, Marina M; Garcia-Herrero, Carmen Maria CM; Tinto, Nadia N; Carluccio, Carla C; Capobianco, Valentina V; Coto, Iolanda I; Cola, Arturo A; Iafusco, Dario D; Franzese, Adriana A; Zagari, Adriana A; Navas, Maria Angeles MA; Sacchetti, Lucia L

Publication Date: 2012

Variant appearance in text: GCK: 866A>G

PubMed Link: 22761713

Variant Present in the following documents:

• Main text
• pone.0038906.pdf

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