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Academic Journal

CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders.

Subjects: Penetrance*; Genetic Diseases, Inborn/Genetic Diseases, Inborn/Genetic Diseases, Inborn/*genetics; Bayes Theorem

  • Source: PloS one [PLoS One] 2020 Jan 29; Vol. 15 (1), pp. e0228156. Date of Electronic Publication: 2020 Jan 29 (Print Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study.

  • Authors : Liu X; Department of Cardiovascular medicine, the Second Affiliated Hospital of Nanchang University, Nanchang, China.; Shen Y

Subjects: Electrocardiography* ; Genetic Predisposition to Disease* ; Penetrance*

  • Source: PloS one [PLoS One] 2017 May 11; Vol. 12 (5), pp. e0177532. Date of Electronic Publication: 2017 May 11 (Print Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.

  • Authors : He H; Department of Molecular Virology, Immunology and Medical Genetics, Ohio State University, Wexner Medical Center and Comprehensive Cancer Center, the Ohio State University, Columbus, Ohio, USA. ; Li W

Subjects: Mutation* ; Penetrance*; Enhancer Elements, Genetic/Enhancer Elements, Genetic/Enhancer Elements, Genetic/*genetics

  • Source: PloS one [PLoS One] 2013 May 14; Vol. 8 (5), pp. e61920. Date of Electronic Publication: 2013 May 14 (Print Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic-Print Cited Medium: Internet

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