Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.I172R
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CEP78

NM_001330691.3:p.I172R

Associated Papers

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM1_ESM.pdf

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P et al.

Human Genetics, 2022

34148116 (PubMed )
Supplement: 439_2021_2303_MOESM1_ESM.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."