Associated Papers
ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.
Bharde A et al.
The Journal of Liquid Biopsy, 2025
40027235 (PubMed )
Supplement: mmc4.xlsx › Sheet1
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Zhan L et al.
Frontiers in Genetics, 2025
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
[Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in PAX3 gene].
Li X et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2021
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL et al.
Human Genetics, 1998
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