Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.K107_Q108Splc
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PAX3

NM_181458.4:p.K107_Q108Splc

Associated Papers

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Cesca F et al.

International Journal of Pediatric Otorhinolaryngology, 2018

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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."