Varaico: Literature-Extracted Genetic Variants

Gene:TPRN
Variant:p.V449delFs
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TPRN

NM_001128228.3:p.V449delFs

Associated Papers

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

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

Bashir R et al.

Biochemical Genetics, 2013

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."