Evidence map›Paper›PMID 36873089›Full record

ArticleJIMD reports2023

Compound heterozygous variants within two conserved sialyltransferase motifs of

Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, Lynda Holloway, Cindy Skinner, Anna Hurst, Michael Tiemeyer, Richard Steet

Open access · goldAbstract readCase Reports
In one paragraph

Article in JIMD reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
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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 at 3 institutions in 1 country.

Natasha RudyDepartment of Genetics The University of Alabama at Birmingham Birmingham Alabama USA.
Kazuhiro AokiComplex Carbohydrate Research Center University of Georgia Athens Georgia USA.
Amitha AnanthDepartment of Genetics The University of Alabama at Birmingham Birmingham Alabama USA.
Lynda HollowayGreenwood Genetic Center Greenwood South Carolina USA.
Cindy SkinnerGreenwood Genetic Center Greenwood South Carolina USA.
Anna HurstDepartment of Genetics The University of Alabama at Birmingham Birmingham Alabama USA.
Michael TiemeyerComplex Carbohydrate Research Center University of Georgia Athens Georgia USA.
Richard SteetGreenwood Genetic Center Greenwood South Carolina USA.ORCID https://orcid.org/0000-0002-0975-4963
Greenwood Genetic Center · USUniversity of Alabama at Birmingham · USUniversity of Georgia · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GM3 synthase deficiency (GM3SD) is caused by biallelic variants in

Indexed as

GM3GM3 synthase deficiencysialyltransferaseST3GAL5

Identifiers

PMID36873089
PMCPMC9981410
OpenAlexW4310995120

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.