Evidence map›Paper›PMID 39001468›Full record

ArticleCancers2024

Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of

Yunjia Chen, Yulong Fu, Magdalena Koczkowska, Tom Callens, Alicia Gomes, Jian Liu, William Bradley, Bryce Brown, Brandon Shaw, Daniela D'Agostino and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancers, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Repair of MutatedCancers · 2025
    Article
  6. Article
  7. 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.

Yunjia ChenDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0001-9525-6081
Yulong FuDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0001-7991-9965
Magdalena KoczkowskaDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0001-9451-8027
Tom CallensDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Alicia GomesDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Jian LiuDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
William BradleyDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bryce BrownDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Brandon ShawDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Daniela D'AgostinoDivision of Medical Genetics, Departments of Medicine and Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada.
Chuanhua FuDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Deeann WallisDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0002-8217-0892

Funding

UAB Pilot Center for Precision Animal Modeling (C-PAM) - Resource and Service SectionU54OD030167 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Bradley K. Yoder · 2020 to 2026
$15.3M
NIH HHS U54 OD030167
6 · The paper itself

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by loss-of-function variants in the

Indexed as

exon skippinggenotype–phenotype correlationNF1splicing variant

Identifiers

PMID39001468
PMCPMC11240586

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.