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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP250

Variant:p.E1081E

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CEP250

NM_007186.6:p.E1081E

hg38:chr20:35496652 G>A

Associated Papers

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.

Guimaraes TAC et al.

The British Journal of Ophthalmology, 2023

36162969 (PubMed )

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