Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.Q264_V265Splc
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PAX3

NM_181458.4:p.Q264_V265Splc

Associated Papers

Comprehensive analysis of syndromic hearing loss patients in Japan.

Ideura M et al.

Scientific Reports, 2019

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

Wollnik B et al.

American Journal of Medical Genetics. Part A, 2003

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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."