Varaico: Literature-Extracted Genetic Variants

Gene:TPRN
Variant:p.A14_W18delFs
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TPRN

NM_001128228.3:p.A14_W18delFs

Associated Papers

Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.

Belyantseva IA et al.

The Journal of Cell Biology, 2025

40471101 (PubMed )
Supplement: jcb_202408026.pdf

Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.

Sidenna M et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

D'Aguillo C et al.

International Journal of Audiology, 2019

Genetic causes of moderate to severe hearing loss point to modifiers.

Naz S et al.

Clinical Genetics, 2017

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

NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

Chakchouk I et al.

The Journal of Molecular Diagnostics : Jmd, 2015

The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.

Bashir R et al.

Biochemical Genetics, 2013

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

Li Y et al.

American Journal of Human Genetics, 2010

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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."