Evidence map›Paper›PMID 34887308›Full record

ArticleCold Spring Harbor molecular case studies2021

The blended phenotype of a germline

Siren Berland, Jørgen Jareld, Nicholas Hickson, Helene Schlecht, Gunnar Houge, Sofia Douzgou

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cold Spring Harbor molecular case studies, 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
–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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. 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

6 authors at 3 institutions in 2 countries.

Siren BerlandDepartment of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway.ORCID 0000-0002-8048-6682
Jørgen JareldDepartment of Paediatrics, Ålesund Hospital, Møre and Romsdal Health Trust, 6026, Ålesund, Norway.
Nicholas HicksonManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Oxford Road, M13 9WL, United Kingdom.
Helene SchlechtManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Oxford Road, M13 9WL, United Kingdom.ORCID 0000-0002-1916-6575
Gunnar HougeDepartment of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway.ORCID 0000-0002-6102-1513
Sofia DouzgouDepartment of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway.ORCID 0000-0001-8890-7544
Haukeland University Hospital · NOSt Mary's Hospital · GBÅlesund Hospital · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a patient with a germline

Indexed as

Germ CellsPhosphatidylinositol 3-KinasesClass I Phosphatidylinositol 3-KinasesHumansMutationPhenotyperas ProteinsClass I Phosphatidylinositol 3-KinasesPhosphatidylinositol 3-KinasesPIK3CA protein, humanras ProteinsRIT1 protein, humanfacial midline hemangiomalarge placentamacrocephaly at birthmacrocephaly due to hydrocephaluspolyhydramniosquestion mark ear

Identifiers

PMID34887308
PMCPMC8751416
OpenAlexW4200428373

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.