Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.R100C
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CABP4

NM_145200.5:p.R100C

Associated Papers

Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital cone-rod synaptic disorder.

Mousawi Z et al.

Ophthalmic Genetics, 2026

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1
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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."