The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance
- DOI
- 10.1111/cge.14642
- Published
- 2024-11-05
- Container
- Clinical Genetics
- Publisher
- Wiley
- Open access
- unknown
Credibility signals
uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- supportingDOI registered: A matching record was returned by Crossref.
- supportingDOI resolves: A matching record was returned by Crossref.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- supportingMetadata completeness: All 6 scored descriptive metadata groups are present.
Cite this work
BibTeX
@article{allodium:10.1111/cge.14642,
title = {The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance},
author = {Stefano Medaglia and Jaume Reig‐Palou and Ariadna Bellés and Nerea Moreno‐Ruiz and Jairo Rodríguez and Xavier Armengol and Juan Ignacio Aróstegui and Lluís Armengol and Juan José Guillén and Hafid Laayouni and Ferran Casals},
year = {2024},
journal = {Clinical Genetics},
doi = {10.1111/cge.14642},
url = {https://doi.org/10.1111/cge.14642}
}RIS
TY - JOUR TI - The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance AU - Stefano Medaglia AU - Jaume Reig‐Palou AU - Ariadna Bellés AU - Nerea Moreno‐Ruiz AU - Jairo Rodríguez AU - Xavier Armengol AU - Juan Ignacio Aróstegui AU - Lluís Armengol AU - Juan José Guillén AU - Hafid Laayouni AU - Ferran Casals PY - 2024 JO - Clinical Genetics DO - 10.1111/cge.14642 UR - https://doi.org/10.1111/cge.14642 ER -
APA
Medaglia, S., Reig‐Palou, J., Bellés, A., Moreno‐Ruiz, N., Rodríguez, J., Armengol, X., Aróstegui, J. I., Armengol, L., Guillén, J. J., Laayouni, H., & Casals, F. (2024). The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance. Clinical Genetics. https://doi.org/10.1111/cge.14642
Source records
- crossref · retrieved 2026-09-26T14:04:10.883Z