Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.A196_A198delFs
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PAX3

NM_181458.4:p.A196_A198delFs

Associated Papers

Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.

Zhou Z et al.

Biomedical Reports, 2025

40322553 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_S2

[Application of next generation sequencing in 3 Waardenburg syndrome].

Xu B et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2021

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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."