Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
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Title
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
Authors
Keywords
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Journal
Scientific Reports
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-01-12
DOI
10.1038/s41598-021-04688-5
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Note: Only part of the references are listed.- Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach
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- Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel
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- The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification
- (2017) Shin-ya Nishio et al. HUMAN MUTATION
- STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic
- (2017) Pavlina Plevova et al. OTOLOGY & NEUROTOLOGY
- Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
- (2016) Christina M. Sloan-Heggen et al. HUMAN GENETICS
- Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
- (2015) Shin-Ya Nishio et al. Genetic Testing and Molecular Biomarkers
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss
- (2014) Guney Bademci et al. Genetic Testing and Molecular Biomarkers
- Comprehensive Diagnostic Testing for Stereocilin
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- DFNB16 is a frequent cause of congenital hearing impairment: implementation ofSTRCmutation analysis in routine diagnostics
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- Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
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- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
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