Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Schottmann G, Martínez Almudéver C, Knop JCM, Suk EK, Meyer Z, Kohlhase J, Himmelreich N, Kühnisch J, Ott CE, Seifert W

DOI: 10.3389/fnins.2024.1488133
Published: 2024
Container: Frontiers in neuroscience
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 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. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
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. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.3389/fnins.2024.1488133,
  title = {Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.},
  author = {Schottmann G and Martínez Almudéver C and Knop JCM and Suk EK and Meyer Z and Kohlhase J and Himmelreich N and Kühnisch J and Ott CE and Seifert W},
  year = {2024},
  journal = {Frontiers in neuroscience},
  doi = {10.3389/fnins.2024.1488133},
  url = {https://doi.org/10.3389/fnins.2024.1488133}
}

RIS

TY  - JOUR
TI  - Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.
AU  - Schottmann G
AU  - Martínez Almudéver C
AU  - Knop JCM
AU  - Suk EK
AU  - Meyer Z
AU  - Kohlhase J
AU  - Himmelreich N
AU  - Kühnisch J
AU  - Ott CE
AU  - Seifert W
PY  - 2024
JO  - Frontiers in neuroscience
DO  - 10.3389/fnins.2024.1488133
UR  - https://doi.org/10.3389/fnins.2024.1488133
ER  -

APA

G, S., C, M. A., JCM, K., EK, S., Z, M., J, K., N, H., J, K., CE, O., & W, S. (2024). Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.. Frontiers in neuroscience. https://doi.org/10.3389/fnins.2024.1488133

Source records

pubmed · retrieved 2026-09-27T15:03:25.394Z