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: C788Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: KIT: 2363G>A; C788Y

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

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Discordant Mutations in Paired Primary and Metastatic Endometrial Adenocarcinomas Identified by Semiconductor-Based Sequencing for Rapid Cancer Genotyping.

Reproductive Sciences (Thousand Oaks, Calif.)

Bergstrom, Colin P CP; Geest, Koen De K; O'Gara, Rebecca R; Corless, Christopher L CL; Morgan, Terry K TK

Publication Date: 2016-11

Variant appearance in text: KIT: C788Y

PubMed Link: 27170661

Variant Present in the following documents:

• Main text

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KIT mutations in primary mediastinal B-cell lymphoma.

Blood Cancer Journal

Nagel, P D PD; Stenzinger, A A; Feld, F M FM; Herrmann, M D MD; Brüderlein, S S; Barth, T F E TF; Marienfeld, R R; Endris, V V; Weichert, W W; Debatin, K-M KM; Westhoff, M-A MA; Lessel, D D; Möller, P P; Lennerz, J K JK

Publication Date: 2014-08-22

Variant appearance in text: KIT: C788Y

PubMed Link: 25148223

Variant Present in the following documents:

• Main text
• bcj201461a.pdf

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