Varaico: Literature-Extracted Genetic Variants

Gene:CEP250
Variant:p.E164_F165Splc
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CEP250

NM_007186.6:p.E164_F165Splc

Associated Papers

Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.

Vargas JG et al.

Ophthalmic Genetics, 2022

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."