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: F591L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: F591L

PubMed Link: 29698444

Variant Present in the following documents:

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

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Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India.

Iranian Journal Of Cancer Prevention

Hussain, S R SR; Raza, S T ST; Babu, S G SG; Singh, P P; Naqvi, H H; Mahdi, F F

Publication Date: 2012

Variant appearance in text: KIT: phe591Leu

PubMed Link: 25780536

Variant Present in the following documents:

• Main text
• IJCP-05-027.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: KIT: F591L

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Vila, Lizette L; Liu, Hongyan H; Al-Quran, Samer Z SZ; Coco, Dominique P DP; Dong, Hui-Jia HJ; Liu, Chen C

Publication Date: 2009-10

Variant appearance in text: KIT: Phe591Leu

PubMed Link: 19617878

Variant Present in the following documents:

• Main text

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