Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.R1596C
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CDH23

NM_022124.6:p.R1596C

Associated Papers

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Almontashiri NAM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29048421 (PubMed )
Supplement: gim2017143x1.xlsx › Table_S2

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P et al.

Journal of Medical Genetics, 2012

22135276 (PubMed )
Supplement: jmedgenet-2011-100468-s5.pdf
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