Evidence map›Paper›PMID 34943336›Full record

ArticleChildren (Basel, Switzerland)2021

Novel Compound Heterozygous Variants in

Chih-Ling Chen, Chien-Nan Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Tung-Ming Chang, Ni-Chung Lee

Abstract readCase Reports
In one paragraph

Article in Children (Basel, Switzerland), 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.

  1. Article
  2. A Variant inInternational journal of molecular sciences · 2023
    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.

Chih-Ling ChenDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan.ORCID 0000-0003-3168-6159
Chien-Nan LeeDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan.
Yin-Hsiu ChienDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan.ORCID 0000-0001-8802-5728
Wuh-Liang HwuDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan.ORCID 0000-0001-6690-4879
Tung-Ming ChangDepartment of Pediatrics, Changhua Christian Hospital, Changhua 50006, Taiwan.
Ni-Chung LeeDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan.ORCID 0000-0002-5011-7499

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in tubulin-specific chaperon D (TBCD), the gene encoding one of the co-chaperons required for the assembly and disassembly of the α/β-tubulin heterodimers, have been reported to cause perturbed microtubule dynamics, resulting in debilitating early-onset progressive neurodegenerative disorder. Here, we identified two novel

Indexed as

biallelicneurodegenerationTBCDtubulinopathy

Identifiers

PMID34943336
PMCPMC8699832

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.