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: L657F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Analysis of KIT gene mutations in patients with melanoma of the head and neck mucosa: a retrospective clinical report.

Oncotarget

Toscano de Mendonça, Ullyanov Bezerra UB; Cernea, Claudio Roberto CR; Matos, Leandro Luongo LL; Monteiro de Araujo Lima, Roberto Rego RR

Publication Date: 2018-05-01

Variant appearance in text: KIT: L657F

PubMed Link: 29796159

Variant Present in the following documents:

• Main text
• oncotarget-09-22886.pdf

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: KIT: L657F

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1

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