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: KIT: R796S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: KIT: 2388A>T; Arg796Ser

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s6.xlsx, sheet 8

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Pancreatic endocrine tumours: mutational and immunohistochemical survey of protein kinases reveals alterations in targetable kinases in cancer cell lines and rare primaries.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Corbo, V V; Beghelli, S S; Bersani, S S; Antonello, D D; Talamini, G G; Brunelli, M M; Capelli, P P; Falconi, M M; Scarpa, A A

Publication Date: 2012-01

Variant appearance in text: KIT: R796s

PubMed Link: 21447618

Variant Present in the following documents:

• Main text
• mdr048.pdf

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