ArticleNeurology. Genetics2025
A Novel Homozygous
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Non-transport functions of motor proteins in corticogenesis.Frontiers in cell and developmental biology · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Variants of unknown significance (VUS) pose an extensive clinical challenge. Our objective was to explore the diagnostic pipeline from symptom onset to molecular diagnosis in autosomal recessive (Spastic ataxia type 2 [SPAX2], Mendelian Inheritance in Man [MIM] number 611302) caused by a new homozygous variant in the Methods: Two unrelated individuals with early-onset spastic ataxia were evaluated for genetic etiology by exome sequencing. Case reports were compiled through a medical chart review. Two cellular models were established to assess variant pathogenicity. Results: Whole exome sequencing revealed a homozygous variant in Discussion: Classification of pathogenicity requires extensive multidisciplinary effort, which can be burdensome for affected individuals and families. Like other proteins of the kinesin family, variants in KIF1C may underlie retinal dysfunction.
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.