Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.V75M
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CIB2

NM_006383.4:p.V75M

Associated Papers

Mechanoelectrical transduction-related genetic forms of hearing loss.

Jung J et al.

Current Opinion in Physiology, 2023

Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.

Lee SY et al.

International Journal of Molecular Sciences, 2019

Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT et al.

Clinical Genetics, 2018

PDZD7 and hearing loss: More than just a modifier.

Booth KT et al.

American Journal of Medical Genetics. Part A, 2015

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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."