A novel homozygous variant in the ATP7B gene in a patient with Wilson's disease: a case report.

Shavrak VE, Zhalsanova IZ, Fonova EA, Erburova DN, Kolesnikov NA, Fomenko SS, Petrova VV, Seitova GN, Stepanov VA, Skryabin NA

Open source

DOI: 10.3389/fmed.2026.1827993
Published: 2026
Container: Frontiers in medicine
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/fmed.2026.1827993,
  title = {A novel homozygous variant in the ATP7B gene in a patient with Wilson's disease: a case report.},
  author = {Shavrak VE and Zhalsanova IZ and Fonova EA and Erburova DN and Kolesnikov NA and Fomenko SS and Petrova VV and Seitova GN and Stepanov VA and Skryabin NA},
  year = {2026},
  journal = {Frontiers in medicine},
  doi = {10.3389/fmed.2026.1827993},
  url = {https://doi.org/10.3389/fmed.2026.1827993}
}

RIS

TY  - JOUR
TI  - A novel homozygous variant in the ATP7B gene in a patient with Wilson's disease: a case report.
AU  - Shavrak VE
AU  - Zhalsanova IZ
AU  - Fonova EA
AU  - Erburova DN
AU  - Kolesnikov NA
AU  - Fomenko SS
AU  - Petrova VV
AU  - Seitova GN
AU  - Stepanov VA
AU  - Skryabin NA
PY  - 2026
JO  - Frontiers in medicine
DO  - 10.3389/fmed.2026.1827993
UR  - https://doi.org/10.3389/fmed.2026.1827993
ER  -

APA

VE, S., IZ, Z., EA, F., DN, E., NA, K., SS, F., VV, P., GN, S., VA, S., & NA, S. (2026). A novel homozygous variant in the ATP7B gene in a patient with Wilson's disease: a case report.. Frontiers in medicine. https://doi.org/10.3389/fmed.2026.1827993

Source records

pubmed · retrieved 2026-09-27T15:32:21.910Z