A Novel Deep‐Intronic Variant in <scp> <i>HES7</i> </scp> Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis
- DOI
- 10.1111/cge.70271
- Published
- 2026-11-03
- 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.70271,
title = {A Novel Deep‐Intronic Variant in
<scp>
<i>HES7</i>
</scp>
Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis},
author = {Elsa Lucas‐Castro and Mercedes León‐López and Alejandra Ráez‐Casarrubios and Francisca Díaz‐González and Silvia Modamio‐Høybjør and Ana Coral Barreda‐Bonis and Emi Rikeros‐Orozco and Pablo Lapunzina and Fernando Santos‐Simarro and Manuel Parrón‐Pajares and Karen E. Heath},
year = {2026},
journal = {Clinical Genetics},
doi = {10.1111/cge.70271},
url = {https://doi.org/10.1111/cge.70271}
}RIS
TY - JOUR
TI - A Novel Deep‐Intronic Variant in
<scp>
<i>HES7</i>
</scp>
Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis
AU - Elsa Lucas‐Castro
AU - Mercedes León‐López
AU - Alejandra Ráez‐Casarrubios
AU - Francisca Díaz‐González
AU - Silvia Modamio‐Høybjør
AU - Ana Coral Barreda‐Bonis
AU - Emi Rikeros‐Orozco
AU - Pablo Lapunzina
AU - Fernando Santos‐Simarro
AU - Manuel Parrón‐Pajares
AU - Karen E. Heath
PY - 2026
JO - Clinical Genetics
DO - 10.1111/cge.70271
UR - https://doi.org/10.1111/cge.70271
ER - APA
Lucas‐Castro, E., León‐López, M., Ráez‐Casarrubios, A., Díaz‐González, F., Modamio‐Høybjør, S., Barreda‐Bonis, A. C., Rikeros‐Orozco, E., Lapunzina, P., Santos‐Simarro, F., Parrón‐Pajares, M., & Heath, K. E. (2026). A Novel Deep‐Intronic Variant in <scp> <i>HES7</i> </scp> Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis. Clinical Genetics. https://doi.org/10.1111/cge.70271
Source records
- crossref · retrieved 2026-11-05T07:41:55.212Z