Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.I82M
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GJA1

NM_000165.5:p.I82M

Associated Papers

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

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

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

Gardner P et al.

Pediatrics, 2006

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