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Article

Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study.

EBioMedicine - 1 Apr 2021

Amanat Sana, Gallego-Martinez Alvaro, Sollini Joseph, Perez-Carpena Patricia, Espinosa-Sanchez Juan M, Aran Ismael, Soto-Varela Andres, Batuecas-Caletrio Angel, Canlon Barbara, May Patrick, Cederroth Christopher R, Lopez-Escamez Jose A

Abstract excerpt

BACKGROUND: tinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies include individuals with self-reported tinnitus and large...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33813136
DOI: 10.1016/j.ebiom.2021.103309
PMCID: PMC8047463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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