Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.K41R
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GJB2

NM_004004.6:p.K41R

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.

del Castillo FJ et al.

Frontiers in Bioscience (landmark Edition), 2011

Connexin26 mutations associated with nonsyndromic hearing loss.

Park HJ et al.

The Laryngoscope, 2000

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Kenneson A et al.

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

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