Varaico: Literature-Extracted Genetic Variants

Gene:GIPC3
Variant:p.W301*
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GIPC3

NM_133261.3:p.W301*

Associated Papers

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.

Petrova NV et al.

Genes, 2021

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.

Li YR et al.

Nature Communications, 2020

Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India.

Kalaimathi M et al.

Journal of Genetics, 2020

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Functional proteomics, human genetics and cancer biology of GIPC family members.

Katoh M

Experimental & Molecular Medicine, 2013

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

Rehman AU et al.

Human Genetics, 2011

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

Charizopoulou N et al.

Nature Communications, 2011

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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."