Evidence map›Paper›PMID 33809020›Full record

ArticleDiagnostics (Basel, Switzerland)2021

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

Sarah C Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 35% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Clinical and genetic spectrum of GSD type 6 in Korea.Orphanet journal of rare diseases · 2023
    Article
  2. 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 1 country.

Sarah C GrünertDepartment of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0001-5986-0468
Luciana HannibalLaboratory of Clinical Biochemistry and Metabolism, Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0002-0911-5758
Anke SchumannDepartment of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0002-7958-0188
Stefanie Rosenbaum-FabianDepartment of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.
Stefanie Beck-WödlInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Mona GrimmelInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Miriam BertrandInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Ute SpiekerkoetterDepartment of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.
University of Freiburg · DEUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionGlycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the

resultsWe report on two non-related Turkish patients with a novel homozygous splice site variant, c.345G>A, which was shown to lead to exon 2 skipping of the PYGL-mRNA by exome and transcriptome analysis. According to an in silico analysis, deletion Arg82_Gln115del is predicted to impair protein stability and possibly AMP binding.

conclusionGSD VI is a possibly underdiagnosed disorder, and in the era of next generation sequencing, more and more patients with variants of unknown significance in the

Indexed as

glycogen metabolismglycogen phosphorylasein silico analysisPYGLsplice varianttranscriptome analysis

Identifiers

PMID33809020
PMCPMC7998545
OpenAlexW3138451831

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.