Varaico: Literature-Extracted Genetic Variants

Gene:CEP250
Variant:p.E767delFs
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CEP250

NM_007186.6:p.E767delFs

Associated Papers

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

García-Bohórquez B et al.

Molecular Therapy. Nucleic Acids, 2024

39629117 (PubMed )
Supplement: mmc2.pdf

Syndromic Retinitis Pigmentosa: A 15-Patient Study.

Holanda IP et al.

Genes, 2024

Atypical and ultra-rare Usher syndrome: a review.

Nolen RM et al.

Ophthalmic Genetics, 2020

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

de Castro-Miró M et al.

Plos One, 2016

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