Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort
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.
Authors
- Chitra Bhardwaj
- Shifali Gupta
- Priyanka Srivastava (ORCID: https://orcid.org/0000-0003-1840-5711)
- Mark Peters (ORCID: https://orcid.org/0000-0003-3653-4808)
- Parminder Kaur (ORCID: https://orcid.org/0000-0002-7015-3489)
- Inusha Panigrahi (ORCID: https://orcid.org/0000-0001-7375-9892)
- Roshan Daniel (ORCID: https://orcid.org/0000-0001-6785-915X)
- Anu Kumari
- Ravi Pratap Singh Bhadoriya
- Anupriya Kaur (ORCID: https://orcid.org/0000-0002-5307-5677)
- Pratibha Bawa
Institutions
- Post Graduate Institute of Medical Education and Research (IN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-10
- DOI
- https://doi.org/10.3389/fgene.2025.1677143
- Citations
- 1
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Postgraduate Institute of Medical Education and Research, Chandigarh