Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E42D
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GJB2

NM_004004.6:p.E42D

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India.

Chandru J et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2020

Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.

Amritkumar P et al.

Bmc Medical Genetics, 2018

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