Evidence map›Paper›PMID 34360608›Full record

ArticleInternational journal of molecular sciences2021

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with

Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 44% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

9 authors at 2 institutions in 2 countries.

Susanne KohlCentre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-6438-6331
Britta BaumannCentre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Francesca DassieDepartment of Medicine (DIMED), University of Padua, 35121 Padua, Italy.
Anja K MayerCentre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Maria SolakiCentre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Peggy ReuterCentre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Laura KühleweinCentre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.
Bernd WissingerCentre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.ORCID 0000-0001-8964-5953
Pietro MaffeiDepartment of Medicine (DIMED), University of Padua, 35121 Padua, Italy.ORCID 0000-0002-1717-263X
STZ eyetrial · DEUniversity of Padua · IT

Funding

Deutsche Forschungsgemeinschaft 39853967 (KO 2176/3-1)
6 · The paper itself

Abstract

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes

Indexed as

FathersMutationUniparental DisomyAdolescentChromosomes, Human, Pair 2Color Vision DefectsCyclic Nucleotide-Gated Cation ChannelsFemaleGenes, RecessiveHumansMalePedigreePhenotypeCNGA3 protein, humanCyclic Nucleotide-Gated Cation ChannelsACHMachromatopsiachromosome 2CNGA3uniparental isodisomy

Identifiers

PMID34360608
PMCPMC8346044
OpenAlexW3184814774

What Socratic 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 Socratic graph.