Evidence map›Paper›PMID 29400309›Full record

ArticleBalkan medical journal2018

Novel Founder Mutation in

Marija Dimishkovska, Vjosa Mulliqi Kotori, Zoran Gucev, Svetlana Kocheva, Momir Polenakovic, Dijana Plaseska-Karanfilska

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Balkan medical journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.3field-weighted citation impact, top 40% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. NovelMolecular cytogenetics · 2020
    Article
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 2 countries.

Marija DimishkovskaResearch Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Science and Arts, Skopje, Macedonia.
Vjosa Mulliqi KotoriDepartment of Endocrinology, Pediatric Clinic, University Clinical Center, Prishtina, Republic of Kosovo.
Zoran GucevDepartment of Pediatrics, St. Cyril and Methodius University, Skopje, Macedonia.
Svetlana KochevaDepartment of Pediatrics, St. Cyril and Methodius University, Skopje, Macedonia.
Momir PolenakovicResearch Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Science and Arts, Skopje, Macedonia.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Science and Arts, Skopje, Macedonia.
Macedonian Academy of Sciences and Arts · MKSaints Cyril and Methodius University of Skopje · MKUniversity Clinical Center of Kosovo · XK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the CASE REPORT: The novel

conclusionThe finding of the

Indexed as

MutationBalkan PeninsulaChildChild, PreschoolDNA-Binding ProteinsDNA Mutational AnalysisFanconi AnemiaFanconi Anemia Complementation Group A ProteinFemaleFounder EffectHomozygoteHumansKosovoRepublic of North MacedoniaRomani PeopleDNA-Binding ProteinsFANCA protein, humanFanconi Anemia Complementation Group A ProteinFanconi anemiamutation Balkan region.

Identifiers

PMID29400309
PMCPMC5820438
OpenAlexW2747576929

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.