Publications:

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Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.

Cold Spring Harbor Molecular Case Studies

Crawford, Kenneth A KA; Berlow, Noah E NE; Tsay, Jennifer J; Lazich, Michael M; Mancini, Maria M; Noakes, Christopher C; Huang, Tannie T; Keller, Charles C

Publication Date: 2020-06

Variant appearance in text: KIT: 2402C>T

PubMed Link: 32532875

Variant Present in the following documents:

• Main text

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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: T801I

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: T801I

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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Integrative annotation and knowledge discovery of kinase post-translational modifications and cancer-associated mutations through federated protein ontologies and resources.

Scientific Reports

Huang, Liang-Chin LC; Ross, Karen E KE; Baffi, Timothy R TR; Drabkin, Harold H; Kochut, Krzysztof J KJ; Ruan, Zheng Z; D'Eustachio, Peter P; McSkimming, Daniel D; Arighi, Cecilia C; Chen, Chuming C; Natale, Darren A DA; Smith, Cynthia C; Gaudet, Pascale P; Newton, Alexandra C AC; Wu, Cathy C; Kannan, Natarajan N

Publication Date: 2018-04-25

Variant appearance in text: KIT: T801I

PubMed Link: 29695735

Variant Present in the following documents:

• 41598_2018_24457_MOESM1_ESM.pdf

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The energy landscape analysis of cancer mutations in protein kinases.

Plos One

Dixit, Anshuman A; Verkhivker, Gennady M GM

Publication Date: 2011

Variant appearance in text: KIT: T801I

PubMed Link: 21998754

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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: T801I

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.

Blood

Link, Daniel C DC; Kunter, Ghada G; Kasai, Yumi Y; Zhao, Yu Y; Miner, Tracie T; McLellan, Michael D MD; Ries, Rhonda E RE; Kapur, Deepak D; Nagarajan, Rakesh R; Dale, David C DC; Bolyard, Audrey Anna AA; Boxer, Laurence A LA; Welte, Karl K; Zeidler, Cornelia C; Donadieu, Jean J; Bellanné-Chantelot, Christine C; Vardiman, James W JW; Caligiuri, Michael A MA; Bloomfield, Clara D CD; DiPersio, John F JF; Tomasson, Michael H MH; Graubert, Timothy A TA; Westervelt, Peter P; Watson, Mark M; Shannon, William W; Baty, Jack J; Mardis, Elaine R ER; Wilson, Richard K RK; Ley, Timothy J TJ

Publication Date: 2007-09-01

Variant appearance in text: KIT: T801I

PubMed Link: 17494858

Variant Present in the following documents:

• Main text

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KIT mutations are common in testicular seminomas.

The American Journal Of Pathology

Kemmer, Kathleen K; Corless, Christopher L CL; Fletcher, Jonathan A JA; McGreevey, Laura L; Haley, Andrea A; Griffith, Diana D; Cummings, Oscar W OW; Wait, Cecily C; Town, Ajia A; Heinrich, Michael C MC

Publication Date: 2004-01

Variant appearance in text: KIT: T801I

PubMed Link: 14695343

Variant Present in the following documents:

• Main text

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