Varaico: Literature-Extracted Genetic Variants

Gene:CABP2
Variant:p.F164fs
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CABP2

NM_016366.3:p.F164fs

Associated Papers

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.

Kraatari-Tiri M et al.

International Journal of Audiology, 2025

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.

Schrauwen I et al.

American Journal of Human Genetics, 2012

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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."