Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

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Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

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Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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Targeted Resequencing of Deafn ...... ariant in Northeastern Brazil.

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Targeted Resequencing of Deafn ...... ariant in Northeastern Brazil.

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Targeted Resequencing of Deafn ...... ariant in Northeastern Brazil.

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Targeted Resequencing of Deafn ...... ariant in Northeastern Brazil.

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Targeted Resequencing of Deafn ...... ariant in Northeastern Brazil.

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Targeted Resequencing of Deafn ...... ariant in Northeastern Brazil.

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Targeted Resequencing of Deafn ...... ariant in Northeastern Brazil.

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Angelina X Acosta

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Danniel S Dias Da Silva

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Demet Tekin

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F Basak Cengiz

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Gabrielle N Manzoli

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Ibis Menendez

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Isalis Sanchez-Pena

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Joseph Foster

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Kiyoko Abe-Sandes

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Susan H Blanton

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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Autosomal recessive nonsyndromic deafness genes: a review

A method and server for predicting damaging missense mutations

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

Whole-exome sequencing and its impact in hereditary hearing loss

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.

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

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327-331

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scholarly article

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10.1111/AHG.12177

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English

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Guney Bademci

Mustafa Tekin

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2016-11-01T00:00:00Z

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27870113

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Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

about

P2860

P2860

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

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