A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
- DOI
- 10.1186/1750-1172-6-87
- Published
- 2011 Dec 26
- Container
- Orphanet journal of rare 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:10.1186/1750-1172-6-87,
title = {A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.},
author = {Cassereau J and Chevrollier A and Bonneau D and Verny C and Procaccio V and Reynier P and Ferré M},
year = {2011},
journal = {Orphanet journal of rare diseases},
doi = {10.1186/1750-1172-6-87},
url = {https://doi.org/10.1186/1750-1172-6-87}
}RIS
TY - JOUR TI - A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. AU - Cassereau J AU - Chevrollier A AU - Bonneau D AU - Verny C AU - Procaccio V AU - Reynier P AU - Ferré M PY - 2011 JO - Orphanet journal of rare diseases DO - 10.1186/1750-1172-6-87 UR - https://doi.org/10.1186/1750-1172-6-87 ER -
APA
J, C., A, C., D, B., C, V., V, P., P, R., & M, F. (2011). A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.. Orphanet journal of rare diseases. https://doi.org/10.1186/1750-1172-6-87