ArticleClinical case reports2021
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in
Article in Clinical case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
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.
Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- Identification of four TTN variants in three families with fetal akinesia deformation sequence.BMC medical genomics · 2024Article
- TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.Frontiers in cardiovascular medicine · 2024Article
- Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.American journal of medical genetics. Part A · 2023Article
- Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant inClinical case reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.
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Identifiers
What OpenQuestion holds
Registered trials
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.