Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.Q723R
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P3H3

NM_014262.5:p.Q723R

Associated Papers

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.

Lin Y et al.

The Journal of International Advanced Otology, 2019

Analysis between phenotypes and genotypes of inner ear malformation.

Wang S et al.

Acta Oto-laryngologica, 2019

A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.

Liu Y et al.

Plos One, 2019

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

Luo J et al.

Annals of Human Genetics, 2017

The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.

Huang S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

Zhang F et al.

Biomed Research International, 2016

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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."