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Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra and 3 more

Human Genome Variation · 2021

doi:10.1038/s41439-021-00143-z

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    CADD: predicting the deleteriousness of variants throughout the human genome · 2018
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