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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP250

Variant:p.R1343*

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CEP250

NM_007186.6:p.R1343*

hg38:chr20:35502396 C>T

Associated Papers

The phenotypic spectrum of CEP250 gene variants.

Courdier C et al.

Ophthalmic Genetics, 2025

39610034 (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."