Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.H67R
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GJB6

NM_001110219.3:p.H67R

Associated Papers

Molecular epidemiology of DFNB1 deafness in France.

Roux AF et al.

Bmc Medical Genetics, 2004

Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

Wu BL et al.

American Journal of Medical Genetics. Part A, 2003

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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