Publications:

Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.

Virchows Archiv : An International Journal Of Pathology

Tóth, Béla B; Kiss, Norbert N; Hársing, Judit J; Kárpáti, Sarolta S; Csomor, Judit J; Bödör, Csaba C; Tímár, József J; Rásó, Erzsébet E

Publication Date: 2020-11

Variant appearance in text: KIT: H650Y

PubMed Link: 32372223

Variant Present in the following documents:

• Main text
• 428_2020_Article_2820.pdf

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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: H650Y

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: H650Y

PubMed Link: 29698444

Variant Present in the following documents:

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

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