Homozygous UNC13A Variant in an Infant With Congenital Encephalopathy and Severe Neuromuscular Phenotype: A Case Report With Detailed Central Nervous System Neuropathologic Findings.

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.

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

4 citing papers in PubMed, 2 citations in OpenAlex.

1. Single nucleotide variants inBiochemistry and biophysics reports · 2026
   Article
2. Potential effects on the signaling network mediated by overexpression of the vitronectin gene in Hu sheep ruminal epithelial cells using multi-omics analysis.Frontiers in genetics · 2026
   Article
3. Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Nature genetics · 2025
   Article
4. Genetic disorders of neurotransmitter release machinery.Frontiers in synaptic neuroscience · 2023
   Review

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

Authors and funding

4 authors at 2 institutions in 2 countries.

Funding

No grant is acknowledged in the PubMed record.

Abstract

Indexed as