Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V306fs
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SLC26A4

NM_000441.2:p.V306fs

Associated Papers

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.

He L et al.

Scientific Reports, 2017

28900111 (PubMed )
Supplement: 41598_2017_10099_MOESM1_ESM.pdf

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Usami S et al.

Plos One, 2012

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