Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.L90delFs
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GJB2

NM_004004.6:p.L90delFs

Associated Papers

GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.

Bartsch O et al.

Audiology & Neuro-otology, 2010

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

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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."