Varaico: Literature-Extracted Genetic Variants

Gene:TMIE
Variant:p.E31G
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TMIE

NM_147196.3:p.E31G

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.

Alkhidir S et al.

Scientific Reports, 2024

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us.

Farhadi M et al.

Journal of Cellular and Molecular Medicine, 2021

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

Park HR et al.

Molecular Biology Reports, 2020

Research of genetic bases of hereditary non-syndromic hearing loss.

Subaşıoğlu A et al.

Turk Pediatri Arsivi, 2017

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

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A et al.

Plos One, 2014

Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.

Yang JJ et al.

International Journal of Pediatric Otorhinolaryngology, 2010

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.

Sirmaci A et al.

Clinical Genetics, 2009

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

Santos RL et al.

Journal of Molecular Medicine (berlin, Germany), 2006

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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."