Publications:

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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: G664R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Jaad Case Reports

Nagaputra, Jerry C JC; Koh, Mark J A MJA; Brett, Maggie M; Lim, Eileen C P ECP; Lim, Hwee-Woon HW; Tan, Ene-Choo EC

Publication Date: 2018-05

Variant appearance in text: KIT: Gly664Arg

PubMed Link: 29693058

Variant Present in the following documents:

• Main text
• main.pdf

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Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family.

Annals Of Dermatology

Zheng, Yan Y; Liu, Fen F; Yang, Yao Y; Liang, Yanhua Y

Publication Date: 2017-12

Variant appearance in text: KIT: G664R

PubMed Link: 29200776

Variant Present in the following documents:

• Main text
• ad-29-801.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KIT: G664R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Human Molecular Genetics

McDonell, Laura M LM; Kernohan, Kristin D KD; Boycott, Kym M KM; Sawyer, Sarah L SL

Publication Date: 2015-10-15

Variant appearance in text: KIT: G664R

PubMed Link: 26152202

Variant Present in the following documents:

• Main text

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: KIT: G664R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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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: G664R

PubMed Link: 21998754

Variant Present in the following documents:

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Mutations in the c-Kit gene disrupt mitogen-activated protein kinase signaling during tumor development in adenoid cystic carcinoma of the salivary glands.

Neoplasia (New York, N.Y.)

Tetsu, Osamu O; Phuchareon, Janyaporn J; Chou, Annie A; Cox, Darren P DP; Eisele, David W DW; Jordan, Richard C K RC

Publication Date: 2010-09

Variant appearance in text: KIT: G664R

PubMed Link: 20824047

Variant Present in the following documents:

• Main text

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Sequence-based feature prediction and annotation of proteins.

Genome Biology

Juncker, Agnieszka S AS; Jensen, Lars J LJ; Pierleoni, Andrea A; Bernsel, Andreas A; Tress, Michael L ML; Bork, Peer P; von Heijne, Gunnar G; Valencia, Alfonso A; Ouzounis, Christos A CA; Casadio, Rita R; Brunak, Søren S

Publication Date: 2009-02-02

Variant appearance in text: KIT: G664R

PubMed Link: 19226438

Variant Present in the following documents:

• gb-2009-10-2-206-S1.pdf

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