The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Open accessAbstract
Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10−29. We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant.
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Cites
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Self-citationAnkyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
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Self-citationDetection of sharing by descent, long-range phasing and haplotype imputation
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Variant of TREM2 Associated with the Risk of Alzheimer's Disease
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Self-citationRate of de novo mutations and the importance of father’s age to disease risk
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134
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Metadata
- Authors
- Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H. T., Zanon, C., Magnusson, O. T., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., Matthiasson, S. E., Thorgeirsson, G., Jonasdottir, A., Sigurdsson, A., Stefansson, H., Werge, T., Rafnar, T., Kiemeney, L. A., Parvez, B., Muhammad, R., Roden, D. M., Darbar, D., Thorleifsson, G., Walters, G. B., Kong, A., Thorsteinsdottir, U., Arnar, D. O., & Stefansson, K.
- Venue
- Nature Genetics
- Published
- 2011-03-06
- Volume
- 43
- Issue
- 4
- Pages
- 316-320
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2110745807
- Cited by
- 299
- References
- 8
- FWCI
- 24.40
- Type
- journal article
- Language
- en
- Open access
- green
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