Publications:

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: MYBPC3: F1113I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

Molecular Genetics And Metabolism

Bos, J Martijn JM; Poley, Rainer N RN; Ny, Melissa M; Tester, David J DJ; Xu, Xiaolei X; Vatta, Matteo M; Towbin, Jeffrey A JA; Gersh, Bernard J BJ; Ommen, Steve R SR; Ackerman, Michael J MJ

Publication Date: 2006-05

Variant appearance in text: MYBPC3: F1113I

PubMed Link: 16352453

Variant Present in the following documents:

• Main text

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