Varaico: Literature-Extracted Genetic Variants

Gene:TMIE
Variant:p.R81H
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TMIE

NM_147196.3:p.R81H

Associated Papers

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

Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.

Park HR et al.

Molecular Biology Reports, 2020

Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.

Oonk AM et al.

Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2016

26474130 (PubMed )
Supplement: supplement_1.docx

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

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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."