Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.Q1601*
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CEP290

NM_025114.4:p.Q1601*

Associated Papers

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

Sheck L et al.

Ophthalmology, 2018

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
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