Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.G2085Splc
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CDH23

NM_022124.6:p.G2085Splc

Associated Papers

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.

Shu HR et al.

Bmc Medical Genetics, 2015

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.

Tropitzsch A et al.

Ear and Hearing, 0

37438890 (PubMed )
Supplement: aud-44-1464-s001.pdf
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