Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.E233K
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PAX3

NM_181458.4:p.E233K

Associated Papers

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sheppard SE et al.

Science Advances, 2023

36897941 (PubMed )
Supplement: sciadv.ade1463_sm.pdf

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Li S et al.

Bmc Medical Genomics, 2022

36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf
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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."