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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP290

Variant:p.K555_I556delFs

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CEP290

NM_025114.4:p.K555_I556delFs

hg38:chr12:88118527 ATT>A

Associated Papers

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Yarali O et al.

Journal of Neurogenetics, 2024

39551975 (PubMed )

[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].

Preising MN et al.

Klinische Monatsblatter Fur Augenheilkunde, 2019

30897646 (PubMed )

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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."