ArticleFrontiers in genetics2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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
2 citing papers in PubMed.
- Searching the druggable genome using large language models.Bioinformatics (Oxford, England) · 2026Article
- Searching the Druggable Genome using Large Language Models.bioRxiv : the preprint server for biology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: RASopathies represent a group of genetically heterogeneous developmental disorders caused by germline variants in genes regulating the RAS/MAPK signalling pathway. These syndromes share overlapping clinical features, complicating diagnosis. Dysregulation of this pathway disrupts normal development and contributes to diverse phenotypic manifestations. In this study, we conducted a comprehensive clinico-genetic correlation analysis in a North Indian cohort to identify causative genetic variants. As an exploratory approach, we also applied bioinformatic tools to identify potential drug-gene interactions. Methods: We enrolled 84 patients with clinical suspicion of RASopathy spectrum disorders. Whole exome sequencing (WES) was performed to detect pathogenic variants. Clinical data were systematically collected and analysed for genotype-phenotype correlation. Potential therapeutic agents were queried using the Drug-Gene Interaction database (DGIdb). Results: Pathogenic or likely pathogenic variants in RASopathy-related genes were identified in 46 cases, including 14 with neurofibromatosis. Two patients had variants of unknown significance (VUS) in Conclusion: Our findings underscore the clinical and genetic diversity of RASopathies in the Indian population and highlight the role of next-generation sequencing in early and accurate diagnosis. While exploratory drug-gene interaction analysis provides hypothesis-generating insights, clinical translation requires rigorous validation in functional studies and clinical trials.
Indexed as
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.