Evidence map›Paper›PMID 32913387›Full record

ArticleMolecular vision2020

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of

Nicole Midgley, Lisa Roberts, George Rebello, Raj Ramesar

Abstract read
PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2020. 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
–field-weighted citation impact
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.

  1. Article
  2. Heliyon · 2024
    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

4 authors.

Nicole MidgleyUCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa.
Lisa RobertsUCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa.
George RebelloUCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa.
Raj RamesarUCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Seven founder mutations in Methods: In this study, probands with biallelic mutations in Results: The downgraded c.2588G>C variant was present in 26 families, of whom 24 (92.31%) also carried the hypomorphic variant ( Conclusions: This study adds to the evidence of the pathogenicity downgrade of c.2588G>C, as it results in disease when

Indexed as

AllelesATP-Binding Cassette TransportersCohort StudiesFamilyFemaleGene FrequencyGenotypeHumansMaleMutationPedigreePolymorphism, GeneticSouth AfricaStargardt DiseaseWhite PeopleABCA4 protein, humanATP-Binding Cassette Transporters

Identifiers

PMID32913387
PMCPMC7479065

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.