Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease.
- DOI
- 10.1016/j.gendis.2025.101714
- Published
- 2026 Mar
- Container
- Genes & diseases
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
uncertain Score 53/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- supportingDirectory of Open Access Journals: A matching record was returned by DOAJ.
- 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.
- supportingOpen access status: Normalized open-access status: open.
- 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.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1016/j.gendis.2025.101714,
title = {Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease.},
author = {Ludlam WG and Domínguez-Carral J and Schteinschnaider A and Martemyanov KA and Ortigoza-Escobar JD},
year = {2026},
journal = {Genes \& diseases},
doi = {10.1016/j.gendis.2025.101714},
url = {https://doi.org/10.1016/j.gendis.2025.101714}
}RIS
TY - JOUR TI - Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease. AU - Ludlam WG AU - Domínguez-Carral J AU - Schteinschnaider A AU - Martemyanov KA AU - Ortigoza-Escobar JD PY - 2026 JO - Genes & diseases DO - 10.1016/j.gendis.2025.101714 UR - https://doi.org/10.1016/j.gendis.2025.101714 ER -
APA
WG, L., J, D., A, S., KA, M., & JD, O. (2026). Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease.. Genes & diseases. https://doi.org/10.1016/j.gendis.2025.101714
Source records
- pubmed · retrieved 2026-09-25T21:02:12.329Z
- europe-pmc · retrieved 2026-09-25T21:02:12.331Z
- doaj · retrieved 2026-09-25T21:02:12.342Z