Publications:

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYH7: A259E

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: MYH7: A259E

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s004.xlsx, sheet 1

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Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

Clinical Chemistry

Waldmüller, Stephan S; Müller, Melanie M; Rackebrandt, Kirsten K; Binner, Priska P; Poths, Sven S; Bonin, Michael M; Scheffold, Thomas T

Publication Date: 2008-04

Variant appearance in text: MYH7: 776C>A; Ala259Glu

PubMed Link: 18258667

Variant Present in the following documents:

• Main text

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