Evidence map›Paper›PMID 38137040›Full record

ArticleGenes2023

Compilation of Genotype and Phenotype Data in

Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, Anna Jauch, Katrin Hinderhofer

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 43% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Review
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 1 institution in 1 country.

Alexandra TibeliusInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.
Christina EversInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.
Sabrina OeserInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.ORCID 0009-0007-1915-5415
Isabelle RinkeInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.
Anna JauchInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.
Katrin HinderhoferInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.
Heidelberg University · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (

Indexed as

Brain Diseases, MetabolicAmino Acid Metabolism, Inborn ErrorsGenotypeGlutaryl-CoA DehydrogenaseHumansPhenotypeGlutaryl-CoA DehydrogenaseGCDHgeographic distributionglutaric acidemiaglutaric aciduriaglutaryl-CoA dehydrogenaseinborn errors of metabolismLOVDvariant classificationvariant interpretationvariation database

Identifiers

PMID38137040
PMCPMC10742628
OpenAlexW4389793674

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.