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: S688L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer.

Endocrine Connections

Gerber, Tiemo S TS; Schad, Arno A; Hartmann, Nils N; Springer, Erik E; Zechner, Ulrich U; Musholt, Thomas J TJ

Publication Date: 2018-01

Variant appearance in text: KIT: 2063C>T

PubMed Link: 29133385

Variant Present in the following documents:

• ec-7-47-t001.pdf

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Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer

Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S

Publication Date: 2016-10-18

Variant appearance in text: KIT: 2063C>T; Ser688Leu

PubMed Link: 27756406

Variant Present in the following documents:

• 12943_2016_549_MOESM2_ESM.xlsx, sheet 1

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Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Immunology

Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ

Publication Date: 2012-11

Variant appearance in text: KIT: S688L

PubMed Link: 22957768

Variant Present in the following documents:

• Main text

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