Varaico: Literature-Extracted Genetic Variants

Gene:TPRN
Variant:p.E352E
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TPRN

NM_001128228.3:p.E352E

Associated Papers

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

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

Bashir R et al.

Biochemical Genetics, 2013

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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."