Evidence map›Paper›PMID 33997150›Full record

ArticleBone reports2021

A novel synonymous variant in exon 1 of

Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Manon Godin, Claire Bracquemart, Antoine Resbeut, Gaëlle Rey, Gwenaël Nadeau, Nicolas Richard

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

Article in Bone reports, 2021. 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
0.7field-weighted citation impact, top 27% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Silent but Not Harmless: A SynonymousFrontiers in endocrinology · 2022
    Article
  3. 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 5 institutions in 1 country.

Andreea ApetreiNormandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.
Arnaud MolinNormandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.
Nicolas GruchyNormandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.
Manon GodinNormandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.
Claire BracquemartNormandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.
Antoine ResbeutNormandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.
Gaëlle ReyMetropole Savoie Hospital Center, Genetics Department, Chambéry, France.
Gwenaël NadeauMetropole Savoie Hospital Center, Genetics Department, Chambéry, France.
Nicolas RichardNormandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.
Université de Caen Normandie · FRCentre Hospitalier Métropole Savoie · FRHôpital Georges-Clemenceau · FRBiologie, Génétique et Thérapies ostéoArticulaires et RespiratoiresCentre Hospitalier Universitaire de Caen · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionPseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or paternal allele, respectively, in the imprinted CASE PRESENTATION: We investigated a synonymous

Indexed as

GNASIPPSD2PHP1APPHPPseudohypoparathyroidismSynonymous

Identifiers

PMID33997150
PMCPMC8100090
OpenAlexW3157844562

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.