Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing
We expanded the mutation spectrum of ALMS1 but identified known variants in FYCO1 and CNGA3 genes. We also compiled the currently known mutations in these genes to establish genotype-phenotype correlation.
Authors
- Afeefa Jarral
- Rabia Basharat (ORCID: https://orcid.org/0009-0004-0316-5131)
- Kinza Arshad
- Sundus Sajid
- Ali Imran (ORCID: https://orcid.org/0000-0002-0332-8066)
- Muhammad Ansar (ORCID: https://orcid.org/0000-0002-2175-7956)
Institutions
- Quaid-i-Azam University (PK)
- Mirpur University of Science and Technology (PK)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1002/mgg3.70141
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Higher Education Commission, Pakistan