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A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.
Ophthalmic Genet. 2020 Dec;41(6):556-562. doi: 10.1080/13816810.2020.1807027. Epub 2020 Aug 18.
Ophthalmic Genet. 2020.
PMID: 32811259
Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.
Kandaswamy DK, Prakash MVS, Graw J, Koller S, Magyar I, Tiwari A, Berger W, Santhiya ST.
Kandaswamy DK, et al. Among authors: santhiya st.
Int J Mol Sci. 2020 Dec 16;21(24):9569. doi: 10.3390/ijms21249569.
Int J Mol Sci. 2020.
PMID: 33339270
Free PMC article.
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