Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.R8Q
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BSND

NM_057176.3:p.R8Q

Associated Papers

Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing.

Rezaie N et al.

Molecular Biology Reports, 2024

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Cabanillas R et al.

Bmc Medical Genomics, 2018

STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.

Plevova P et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2017

Genetic diagnosis of childhood sensorineural hearing loss.

Reda Del Barrio S et al.

Acta Otorrinolaringologica Espanola, 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."