ArticleBrain : a journal of neurology2020
Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.International journal of molecular sciences · 2024Review
- Expanding the phenotypic spectrum ofJournal of medical genetics · 2023Article
- Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.Frontiers in genetics · 2023Article
- Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.Annals of human genetics · 2022Article
- A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.European journal of human genetics : EJHG · 2021Article
- Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.Brain : a journal of neurology · 2020Article
- Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy.Annals of Indian Academy of NeurologyArticle
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4 authors at 1 institution in 1 country.
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Abstract
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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.