Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.A196_C198del3
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GJB3

NM_024009.3:p.A196_C198del3

Associated Papers

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Quaio CRAC et al.

Frontiers in Genetics, 2022

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30842647 (PubMed )
Supplement: 41436_2019_464_MOESM2_ESM.xlsx › Summary

Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss.

Scaria SM et al.

Ear and Hearing, 0

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