Associated Papers
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Akhtar Z et al.
Genes, 2024
39766915 (PubMed )
Supplement: genes-15-01646-s001.zip › genes-3342075-supplementary_Table_S1.xlsx › Variants_interpretation_data
Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.
Gopinath C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X et al.
Molecular Vision, 2019
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