Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.L41delFs
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PAX3

NM_181458.4:p.L41delFs

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.

Zhan L et al.

Frontiers in Genetics, 2025

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Sun F et al.

Orphanet Journal of Rare Diseases, 2024

38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1

Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome.

Wang X et al.

Stem Cell Research, 2021

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.

Zhang S et al.

Frontiers in Genetics, 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."