Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.

Ye, Xin Cynthia; van der Lee, Robin; Wasserman, Wyeth W

Ye, Xin Cynthia; van der Lee, Robin; Wasserman, Wyeth W.

Afiliación

Ye XC; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
van der Lee R; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Wasserman WW; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: wyeth@cmmt.ubc.ca.

Gene ; 697: 213-226, 2019 May 20.

Article en En | MEDLINE | ID: mdl-30772522

Asunto(s)

Estrabismo/genética; Biología Computacional/métodos; Curaduría de Datos/métodos; Ontología de Genes; Redes Reguladoras de Genes/genética; Genes ras/genética; Humanos; Sistema de Señalización de MAP Quinasas/genética; Transducción de Señal/genética; Estrabismo/fisiopatología; Transcriptoma/genética; Ubiquitina-Proteína Ligasas/genética; Ubiquitina-Proteína Ligasas/fisiología

Palabras clave

Bioinformatics; Gene curation; Gene set analysis; Genotype-to-phenotype; Strabismus

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Estrabismo Límite: Humans Idioma: En Revista: Gene Año: 2019 Tipo del documento: Article País de afiliación: Canadá

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