Evidence map›Paper›PMID 33375403›Full record

ArticleLife (Basel, Switzerland)2020

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.

Giovana B Bampi, Anabela S Ramalho, Leonardo A Santos, Johannes Wagner, Lieven Dupont, Harry Cuppens, Kris De Boeck, Zoya Ignatova

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Life (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Population Genetic Study ofEcology and evolution · 2026
    Article
  2. Review
  3. Case Report: A Synonymous Mutation inFrontiers in genetics · 2021
    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

8 authors.

Giovana B BampiBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146 Hamburg, Germany.
Anabela S RamalhoCF Organoids Research Lab, Woman and Child Unit, Department of Development and Regeneration, University of Leuven, 3000 Leuven, Belgium.
Leonardo A SantosBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146 Hamburg, Germany.ORCID 0000-0001-5650-8098
Johannes WagnerBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146 Hamburg, Germany.
Lieven DupontCystic Fibrosis Center, University Hospital of Leuven,3000 Leuven, Belgium.
Harry CuppensCF Organoids Research Lab, Woman and Child Unit, Department of Development and Regeneration, University of Leuven, 3000 Leuven, Belgium.ORCID 0000-0001-6961-6258
Kris De BoeckCF Organoids Research Lab, Woman and Child Unit, Department of Development and Regeneration, University of Leuven, 3000 Leuven, Belgium.
Zoya IgnatovaBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146 Hamburg, Germany.ORCID 0000-0002-9478-8825

Funding

Ribosomal perturbation as a mechanism to prevent misfolding of CFTRR01HL136414 · NHLBI · EMORY UNIVERSITY · PI HARTMAN, JOHN L, SORSCHER, ERIC J · 2018 to 2025
$4.5M
muko EV (German Cystic fibrosis foundation) 1603NIH HHS R01HL136414
6 · The paper itself

Abstract

Synonymous single nucleotide polymorphisms (sSNPs), which change a nucleotide, but not the encoded amino acid, are perceived as neutral to protein function and thus, classified as benign. We report a patient who was diagnosed with cystic fibrosis (CF) at an advanced age and presented very mild CF symptoms. The sequencing of the whole cystic fibrosis transmembrane conductance regulator (

Indexed as

Acase reportcystic fibrosishomozygous c.1584G&gtp.Gln528= patient-derived organoidssynonymous SNP

Identifiers

PMID33375403
PMCPMC7824434

What OpenQuestion holds

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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.