Publications:

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KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.

Indian Dermatology Online Journal

Hegde, Shibhani S SS; Srinivas, Sahana M SM; Nanjundappa, Nijaguna N

Publication Date: 2023

Variant appearance in text: KIT: Arg791Gly

PubMed Link: 37089832

Variant Present in the following documents:

• IDOJ-14-240.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: R791G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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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: Arg791Gly

PubMed Link: 29693058

Variant Present in the following documents:

• Main text
• main.pdf

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Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Molecular Medicine Reports

Zhang, Jia J; Li, Ming M; Yao, Zhirong Z

Publication Date: 2016-11

Variant appearance in text: KIT: Arg791Gly

PubMed Link: 27666661

Variant Present in the following documents:

• Main text
• mmr-14-05-4023.pdf

View BVdb publication page

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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: R791G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Therapeutics And Clinical Risk Management

Jia, Wei-Xue WX; Xiao, Xue-Min XM; Wu, Jian-Bing JB; Ma, Yi-Ping YP; Ge, Yi-Ping YP; Li, Qi Q; Mao, Qiu-Xia QX; Li, Cheng-Rang CR

Publication Date: 2015

Variant appearance in text: KIT: R791G

PubMed Link: 25960657

Variant Present in the following documents:

• Main text
• tcrm-11-635.pdf

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Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).

Pediatric Dermatology

Chiu, Yvonne E YE; Dugan, Stefanie S; Basel, Donald D; Siegel, Dawn H DH

Publication Date: 2013

Variant appearance in text: KIT: R791G

PubMed Link: 23016555

Variant Present in the following documents:

• Main text

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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: R791G

PubMed Link: 21998754

Variant Present in the following documents:

View BVdb publication page

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