The DOI matches its Crossref record.
A suggested nomenclature for designating mutations
Abstract
“Editor’s note: There is no internationally accepted nomenclature for mutations in genes and proteins for use, particularly in human disease. This article was invited to produce a nomenclature which at least could be recommended for use by authors in this journal and perhaps be the basis for an internationally accepted nomenclature. As such we invite readers to comment on the proposal put forward by Drs. Beaudet and Tsui in the form of a letter to Human Mutation.”
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
Cited by
Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1
Chandrasekharappa, S. C., Guru, S. C., Manickam, P., Olufemi, S.-E., Collins, F. S., Emmert-Buck, M. R., Debelenko, L. V., Zhuang, Z., Lubensky, I. A., Liotta, L. A., et al. (1997) · Science · doi:10.1126/science.276.5311.404 · Cited by 2,082
Mutations of the human E-cadherin (CDH1) gene
Berx, G., Becker, K.-F., Höfler, H., & van Roy, F. (1998) · Human Mutation · doi:10.1002/(sici)1098-1004(1998)12:4<226::aid-humu2>3.0.co;2-d · Cited by 607
Gonzalez-Angulo, A. M., Timms, K. M., Liu, S., Chen, H., Litton, J. K., Potter, J., Lanchbury, J. S., Stemke-Hale, K., Hennessy, B. T., Arun, B. K., et al. (2011) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-10-2560 · Cited by 573
Schnelzer, A., Prechtel, D., Knaus, U., Dehne, K., Gerhard, M., Graeff, H., Harbeck, N., Schmitt, M., & Lengyel, E. (2000) · Oncogene · doi:10.1038/sj.onc.1203621 · Cited by 347
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families
Simard, J., Tonin, P., Durocher, F., Morgan, K., Rommens, J., Gingras, S., Samson, C., Leblanc, J.-F., Bélanger, C., Dion, F., et al. (1994) · Nature Genetics · doi:10.1038/ng1294-392 · Cited by 324
Metadata
- Authors
- Beaudet, A. L., & Tsui, L.-C.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 1993
- Volume
- 2
- Issue
- 4
- Pages
- 245-248
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2017726138
- Cited by
- 308
- References
- 0
- FWCI
- 18.61
- 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 suggested nomenclature for designating mutations. https://app.cochat.ai/papers/10.1002/humu.1380020402
- The paper
- Beaudet, A. L., & Tsui, L.-C. (1993). A suggested nomenclature for designating mutations. Human Mutation. https://doi.org/10.1002/humu.1380020402
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.
