Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E187del1
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GJB2

NM_004004.6:p.E187del1

Associated Papers

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Bliznetz EA et al.

Journal of Human Genetics, 2017

[Frequency and the mutation spectrum of GJB2-related disorders of hearing in children from Dagestan as compared with the central European part of Russia].

Bozhkova VP et al.

Biofizika, 0

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