The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
A common nonsense mutation results in α-actinin-3 deficiency in the general population
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Kimura, M. (1980) · Journal of Molecular Evolution · doi:10.1007/bf01731581 · Cited by 29,778
Unbiased estimation of the rates of synonymous and nonsynonymous substitution
Li, W.-H. (1993) · Journal of Molecular Evolution · doi:10.1007/bf02407308 · Cited by 1,080
Testing for linkage disequilibrium in genotypic data using the Expectation-Maximization algorithm
Slatkin, M., & Excoffier, L. (1996) · Heredity · doi:10.1038/hdy.1996.55 · Cited by 573
The structure and function of α-actinin
Blanchard, A., Ohanian, V., & Critchley, D. (1989) · Journal of Muscle Research and Cell Motility · doi:10.1007/bf01758424 · Cited by 425
Beggs, A. H., Byers, T. J., Knoll, J. H., Boyce, F. M., Bruns, G. A., & Kunkel, L. M. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)50420-3 · Cited by 321
Self-citationEvolutionary origins and maintenance of redundant gene expression during metazoan development
Cooke, J., Nowak, M. A., Boerlijst, M., & Maynard-Smith, J. (1997) · Trends in Genetics · doi:10.1016/s0168-9525(97)01233-x · Cited by 181
North, K. N., & Beggs, A. H. (1996) · Neuromuscular Disorders · doi:10.1016/0960-8966(96)00361-6 · Cited by 159
Self-citationChan, Y.-M. M., Tong, H.-Q., Beggs, A. H., & Kunkel, L. M. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.8920 · Cited by 74
Self-citation
Cited by
Fiber Types in Mammalian Skeletal Muscles
Schiaffino, S., & Reggiani, C. (2011) · Physiological Reviews · doi:10.1152/physrev.00031.2010 · Cited by 3,022
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
Kaplan, J. M., H Kim, S., North, K. N., Rennke, H., A Correia, L., Tong, H.-Q., Mathis, B. J., Rodríguez-Pérez, J.-C., Allen, P. G., Beggs, A. H., et al. (2000) · Nature Genetics · doi:10.1038/73456 · Cited by 1,235
Self-citationThe sarcomeric Z-disc: a nodal point in signalling and disease
Frank, D., Kuhn, C., Katus, H. A., & Frey, N. (2006) · Journal of Molecular Medicine · doi:10.1007/s00109-005-0033-1 · Cited by 235
Genes and human elite athletic performance
MacArthur, D. G., & North, K. N. (2005) · Human Genetics · doi:10.1007/s00439-005-1261-8 · Cited by 229
Self-citationGene Polymorphisms and Fiber-Type Composition of Human Skeletal Muscle
Ahmetov, I. I., Vinogradova, O. L., & Williams, A. G. (2012) · International Journal of Sport Nutrition and Exercise Metabolism · doi:10.1123/ijsnem.22.4.292 · Cited by 81
Metadata
- Authors
- North, K. N., Yang, N., Wattanasirichaigoon, D., Mills, M., Easteal, S., & Beggs, A. H.
- Venue
- Nature Genetics
- Published
- 1999-04
- Volume
- 21
- Issue
- 4
- Pages
- 353-354
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- DOI
- 10.1038/7675
- OpenAlex
- W1501820843
- Cited by
- 441
- References
- 8
- FWCI
- 1.86
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: A common nonsense mutation results in α-actinin-3 deficiency in the general population. https://app.cochat.ai/papers/10.1038/7675
- The paper
- North, K. N., Yang, N., Wattanasirichaigoon, D., Mills, M., Easteal, S., & Beggs, A. H. (1999). A common nonsense mutation results in α-actinin-3 deficiency in the general population. Nature Genetics. https://doi.org/10.1038/7675
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
