Evidence map›Paper›PMID 36660024›Full record

ArticleMolecular syndromology2023

Mosaicism of a Truncating Variant of

Chihiro Abe-Hatano, Takayuki Yokoi, Kazumi Ida, Kenji Kurosawa

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

Article in Molecular syndromology, 2023. 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
0.2field-weighted citation impact, top 53% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. CASK hypomorph mice display cone photoreceptor dysfunction.bioRxiv : the preprint server for biology · 2026
    Article
  2. 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

4 authors at 1 institution in 1 country.

Chihiro Abe-HatanoDivision of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Takayuki YokoiDivision of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kazumi IdaDivision of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kenji KurosawaDivision of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kanagawa Children's Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Calcium/calmodulin-dependent serine protein kinase ( Case Presentation: The patient is a 6-year-old male with MICPCH, ventricular septal defect, and developmental delay. He achieved rolling over but can not speak meaningful words. We identified a somatic mosaic variant of Discussion: Truncating

Indexed as

CASKCongenital heart diseaseMosaicismNeurodevelopmental disordersTruncating variant

Identifiers

PMID36660024
PMCPMC9843551
OpenAlexW4229012849

What OpenQuestion holds

Textmetadata
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.