Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C12delFs
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ATM

NM_000051.4:p.C12delFs

Associated Papers

Founder Variants of the Turkish.

Kablan A

Clinical Genetics, 2026

Prevalence of GJB2 gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population.

Neagu A et al.

Experimental and Therapeutic Medicine, 2021

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Özyılmaz B et al.

Turkish Archives of Otorhinolaryngology, 2019

Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform.

Martins FT et al.

Bmc Medical Genetics, 2013

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.

Yuan Y et al.

Journal of Translational Medicine, 2010

[Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].

Yuan YY et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2010

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

Seeman P et al.

Clinical Genetics, 2004

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

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

Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.

Cordeiro-Silva Mde F et al.

Brazilian Journal of Otorhinolaryngology, 0

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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."