Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
- DOI
- 10.1136/jmedgenet-2019-106467
- Published
- 2020 Aug
- Container
- Journal of medical genetics
- 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.
- cautionDOI resolves: No matching Crossref record was present in this response.
- 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.
- 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:10.1136/jmedgenet-2019-106467,
title = {Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.},
author = {Germain DP and Oliveira JP and Bichet DG and Yoo HW and Hopkin RJ and Lemay R and Politei J and Wanner C and Wilcox WR and Warnock DG},
year = {2020},
journal = {Journal of medical genetics},
doi = {10.1136/jmedgenet-2019-106467},
url = {https://doi.org/10.1136/jmedgenet-2019-106467}
}RIS
TY - JOUR TI - Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup. AU - Germain DP AU - Oliveira JP AU - Bichet DG AU - Yoo HW AU - Hopkin RJ AU - Lemay R AU - Politei J AU - Wanner C AU - Wilcox WR AU - Warnock DG PY - 2020 JO - Journal of medical genetics DO - 10.1136/jmedgenet-2019-106467 UR - https://doi.org/10.1136/jmedgenet-2019-106467 ER -
APA
DP, G., JP, O., DG, B., HW, Y., RJ, H., R, L., J, P., C, W., WR, W., & DG, W. (2020). Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2019-106467
Source records
- pubmed · retrieved 2026-09-26T17:19:22.129Z
- europe-pmc · retrieved 2026-09-26T17:19:22.144Z
- hal · retrieved 2026-09-26T17:19:22.158Z