Evidence map›Paper›PMID 36210549›Full record

ArticleAmerican journal of medical genetics. Part A2023

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.

Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli and 2 more

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 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
–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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. 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

12 authors.

Lucia Pia BrunoMedical Genetics, University of Siena, Siena, Italy.
Gabriella DoddatoMedical Genetics, University of Siena, Siena, Italy.
Margherita BaldassarriMedical Genetics, University of Siena, Siena, Italy.
Caterina Lo RizzoGenetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.ORCID https://orcid.org/0000-0001-6609-0983
Sara RescinitiMedical Genetics, University of Siena, Siena, Italy.
Mirella BruttiniMedical Genetics, University of Siena, Siena, Italy.
Lista MirjamMedical Genetics, University of Siena, Siena, Italy.
Kristina ZguroMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.ORCID https://orcid.org/0000-0003-4490-3431
Simone FuriniMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.ORCID https://orcid.org/0000-0002-1099-8279
Maria Antonietta MencarelliGenetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Alessandra RenieriMedical Genetics, University of Siena, Siena, Italy.ORCID https://orcid.org/0000-0002-0846-9220
Francesca ArianiMedical Genetics, University of Siena, Siena, Italy.ORCID https://orcid.org/0000-0002-0988-344X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Vesicular Transport ProteinsHumansMutationPACS1 protein, humanVesicular Transport Proteins

Identifiers

PMID36210549
PMCPMC10092205

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.